A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304)
Specialized PHOTOTRANSDUCTION neurons in the vertebrates, such as the RETINAL ROD CELLS and the RETINAL CONE CELLS. Non-visual photoreceptor neurons have been reported in the deep brain, the PINEAL GLAND and organs of the circadian system.
Recording of electric potentials in the retina after stimulation by light.
Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.
The ten-layered nervous tissue membrane of the eye. It is continuous with the OPTIC NERVE and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the CHOROID and the inner surface with the VITREOUS BODY. The outer-most layer is pigmented, whereas the inner nine layers are transparent.
Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms.
A purplish-red, light-sensitive pigment found in RETINAL ROD CELLS of most vertebrates. It is a complex consisting of a molecule of ROD OPSIN and a molecule of 11-cis retinal (RETINALDEHYDE). Rhodopsin exhibits peak absorption wavelength at about 500 nm.
Loss of functional activity and trophic degeneration of nerve axons and their terminal arborizations following the destruction of their cells of origin or interruption of their continuity with these cells. The pathology is characteristic of neurodegenerative diseases. Often the process of nerve degeneration is studied in research on neuroanatomical localization and correlation of the neurophysiology of neural pathways.
'Eye proteins' are structural or functional proteins, such as crystallins, opsins, and collagens, located in various parts of the eye, including the cornea, lens, retina, and aqueous humor, that contribute to maintaining transparency, refractive power, phototransduction, and overall integrity of the visual system.
Specialized cells that detect and transduce light. They are classified into two types based on their light reception structure, the ciliary photoreceptors and the rhabdomeric photoreceptors with MICROVILLI. Ciliary photoreceptor cells use OPSINS that activate a PHOSPHODIESTERASE phosphodiesterase cascade. Rhabdomeric photoreceptor cells use opsins that activate a PHOSPHOLIPASE C cascade.
Photosensitive afferent neurons located in the peripheral retina, with their density increases radially away from the FOVEA CENTRALIS. Being much more sensitive to light than the RETINAL CONE CELLS, the rod cells are responsible for twilight vision (at scotopic intensities) as well as peripheral vision, but provide no color discrimination.
Type III intermediate filament proteins expressed mainly in neurons of the peripheral and CENTRAL NERVOUS SYSTEMS. Peripherins are implicated in neurite elongation during development and axonal regeneration after injury.
A cyclic nucleotide phosphodiesterase subfamily that is highly specific for CYCLIC GMP. It is found predominantly in the outer segment PHOTORECEPTOR CELLS of the RETINA. It is comprised of two catalytic subunits, referred to as alpha and beta, that form a dimer. In addition two regulatory subunits, referred to as gamma and delta, modulate the activity and localization of the enzyme.
Degeneration of distal aspects of a nerve axon following injury to the cell body or proximal portion of the axon. The process is characterized by fragmentation of the axon and its MYELIN SHEATH.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
Photosensitive afferent neurons located primarily within the FOVEA CENTRALIS of the MACULA LUTEA. There are three major types of cone cells (red, blue, and green) whose photopigments have different spectral sensitivity curves. Retinal cone cells operate in daylight vision (at photopic intensities) providing color recognition and central visual acuity.
That portion of the electromagnetic spectrum in the visible, ultraviolet, and infrared range.
Experimentally produced harmful effects of ionizing or non-ionizing RADIATION in CHORDATA animals.
Enzymes that catalyze the rearrangement of geometry about double bonds. EC 5.2.
Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder.
The single layer of pigment-containing epithelial cells in the RETINA, situated closely to the tips (outer segments) of the RETINAL PHOTORECEPTOR CELLS. These epithelial cells are macroglia that perform essential functions for the photoreceptor cells, such as in nutrient transport, phagocytosis of the shed photoreceptor membranes, and ensuring retinal attachment.
Mice bearing mutant genes which are phenotypically expressed in the animals.
Adjustment of the eyes under conditions of low light. The sensitivity of the eye to light is increased during dark adaptation.
Photosensitive proteins in the membranes of PHOTORECEPTOR CELLS such as the rods and the cones. Opsins have varied light absorption properties and are members of the G-PROTEIN-COUPLED RECEPTORS family. Their ligands are VITAMIN A-based chromophores.
Specialized cells in the invertebrates that detect and transduce light. They are predominantly rhabdomeric with an array of photosensitive microvilli. Illumination depolarizes invertebrate photoreceptors by stimulating Na+ influx across the plasma membrane.
A rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be confused with LEBER HEREDITARY OPTIC NEUROPATHY, the disease is thought to be caused by abnormal development of PHOTORECEPTOR CELLS in the RETINA, or by the extremely premature degeneration of retinal cells.
The layer of pigment-containing epithelial cells in the RETINA; the CILIARY BODY; and the IRIS in the eye.
Examination of the interior of the eye with an ophthalmoscope.
Rats bearing mutant genes which are phenotypically expressed in the animals.
The concave interior of the eye, consisting of the retina, the choroid, the sclera, the optic disk, and blood vessels, seen by means of the ophthalmoscope. (Cline et al., Dictionary of Visual Science, 4th ed)
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Degenerative changes in the INTERVERTEBRAL DISC due to aging or structural damage, especially to the vertebral end-plates.
Photosensitive proteins expressed in the ROD PHOTORECEPTOR CELLS. They are the protein components of rod photoreceptor pigments such as RHODOPSIN.
The light sensitive outer portion of a retinal rod or a cone photoreceptor cell. The outer segment contains a stack of disk membranes laden with photoreceptive pigments (RETINAL PIGMENTS). The outer segment is connected to the inner segment by a PHOTORECEPTOR CONNECTING CILIUM.
Inbred C57BL mice are a strain of laboratory mice that have been produced by many generations of brother-sister matings, resulting in a high degree of genetic uniformity and homozygosity, making them widely used for biomedical research, including studies on genetics, immunology, cancer, and neuroscience.
A form of fluorescent antibody technique commonly used to detect serum antibodies and immune complexes in tissues and microorganisms in specimens from patients with infectious diseases. The technique involves formation of an antigen-antibody complex which is labeled with fluorescein-conjugated anti-immunoglobulin antibody. (From Bennington, Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984)
ANIMALS whose GENOME has been altered by GENETIC ENGINEERING, or their offspring.
An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8)
An in situ method for detecting areas of DNA which are nicked during APOPTOSIS. Terminal deoxynucleotidyl transferase is used to add labeled dUTP, in a template-independent manner, to the 3 prime OH ends of either single- or double-stranded DNA. The terminal deoxynucleotidyl transferase nick end labeling, or TUNEL, assay labels apoptosis on a single-cell level, making it more sensitive than agarose gel electrophoresis for analysis of DNA FRAGMENTATION.
Retinal diseases refer to a diverse group of vision-threatening disorders that affect the retina's structure and function, including age-related macular degeneration, diabetic retinopathy, retinal detachment, retinitis pigmentosa, and macular edema, among others.
The process in which light signals are transformed by the PHOTORECEPTOR CELLS into electrical signals which can then be transmitted to the brain.
The inability to see or the loss or absence of perception of visual stimuli. This condition may be the result of EYE DISEASES; OPTIC NERVE DISEASES; OPTIC CHIASM diseases; or BRAIN DISEASES affecting the VISUAL PATHWAYS or OCCIPITAL LOBE.
The portion of a retinal rod cell situated between the ROD INNER SEGMENT and the RETINAL PIGMENT EPITHELIUM. It contains a stack of photosensitive disk membranes laden with RHODOPSIN.
Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable.
Congenital, often bilateral, retinal abnormality characterized by the arrangement of outer nuclear retinal cells in a palisading or radiating pattern surrounding a central ocular space. This disorder is sometimes hereditary.
A 48-Kd protein of the outer segment of the retinal rods and a component of the phototransduction cascade. Arrestin quenches G-protein activation by binding to phosphorylated photolyzed rhodopsin. Arrestin causes experimental autoimmune uveitis when injected into laboratory animals.
Laboratory rats that have been produced from a genetically manipulated rat EGG or rat EMBRYO, MAMMALIAN. They contain genes from another species.
Visualization of a vascular system after intravenous injection of a fluorescein solution. The images may be photographed or televised. It is used especially in studying the retinal and uveal vasculature.
A naturally occurring lipid pigment with histochemical characteristics similar to ceroid. It accumulates in various normal tissues and apparently increases in quantity with age.
A form of RETINAL DEGENERATION in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision.
Heterogeneous group of neurodegenerative disorders characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Multiple subtypes or forms are recognized based on presence or absence of TAU PROTEIN inclusions. FTLD includes three clinical syndromes: FRONTOTEMPORAL DEMENTIA, semantic dementia, and PRIMARY PROGRESSIVE NONFLUENT APHASIA.
An anticholesteremic agent that inhibits sterol biosynthesis in animals.
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.
Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.
Clarity or sharpness of OCULAR VISION or the ability of the eye to see fine details. Visual acuity depends on the functions of RETINA, neuronal transmission, and the interpretative ability of the brain. Normal visual acuity is expressed as 20/20 indicating that one can see at 20 feet what should normally be seen at that distance. Visual acuity can also be influenced by brightness, color, and contrast.
Pathologic changes that occur in the axon and cell body of a neuron proximal to an axonal lesion. The process is characterized by central chromatolysis which features flattening and displacement of the nucleus, loss of Nissl bodies, and cellular edema. Central chromatolysis primarily occurs in lower motor neurons.
Neurons of the innermost layer of the retina, the internal plexiform layer. They are of variable sizes and shapes, and their axons project via the OPTIC NERVE to the brain. A small subset of these cells act as photoreceptors with projections to the SUPRACHIASMATIC NUCLEUS, the center for regulating CIRCADIAN RHYTHM.
'Nerve tissue proteins' are specialized proteins found within the nervous system's biological tissue, including neurofilaments, neuronal cytoskeletal proteins, and neural cell adhesion molecules, which facilitate structural support, intracellular communication, and synaptic connectivity essential for proper neurological function.
Filaments 7-11 nm in diameter found in the cytoplasm of all cells. Many specific proteins belong to this group, e.g., desmin, vimentin, prekeratin, decamin, skeletin, neurofilin, neurofilament protein, and glial fibrillary acid protein.
Nerve cells of the RETINA in the pathway of transmitting light signals to the CENTRAL NERVOUS SYSTEM. They include the outer layer of PHOTORECEPTOR CELLS, the intermediate layer of RETINAL BIPOLAR CELLS and AMACRINE CELLS, and the internal layer of RETINAL GANGLION CELLS.
A heterotrimeric GTP-binding protein that mediates the light activation signal from photolyzed rhodopsin to cyclic GMP phosphodiesterase and is pivotal in the visual excitation process. Activation of rhodopsin on the outer membrane of rod and cone cells causes GTP to bind to transducin followed by dissociation of the alpha subunit-GTP complex from the beta/gamma subunits of transducin. The alpha subunit-GTP complex activates the cyclic GMP phosphodiesterase which catalyzes the hydrolysis of cyclic GMP to 5'-GMP. This leads to closure of the sodium and calcium channels and therefore hyperpolarization of the rod cells. EC 3.6.1.-.
A carotenoid constituent of visual pigments. It is the oxidized form of retinol which functions as the active component of the visual cycle. It is bound to the protein opsin forming the complex rhodopsin. When stimulated by visible light, the retinal component of the rhodopsin complex undergoes isomerization at the 11-position of the double bond to the cis-form; this is reversed in "dark" reactions to return to the native trans-configuration.
An imaging method using LASERS that is used for mapping subsurface structure. When a reflective site in the sample is at the same optical path length (coherence) as the reference mirror, the detector observes interference fringes.
A neuronal calcium-sensor protein that is found in ROD PHOTORECEPTORS and CONE PHOTORECEPTORS. It interacts with G-PROTEIN-COUPLED RECEPTOR KINASE 1 in a Ca2+ dependent manner and plays an important role in PHOTOTRANSDUCTION.
Genes that influence the PHENOTYPE only in the homozygous state.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
INTERNEURONS of the vertebrate RETINA containing two processes. They receive inputs from the RETINAL PHOTORECEPTOR CELLS and send outputs to the RETINAL GANGLION CELLS. The bipolar cells also make lateral connections in the retina with the RETINAL HORIZONTAL CELLS and with the AMACRINE CELLS.
The thin, highly vascular membrane covering most of the posterior of the eye between the RETINA and SCLERA.
One of the mechanisms by which CELL DEATH occurs (compare with NECROSIS and AUTOPHAGOCYTOSIS). Apoptosis is the mechanism responsible for the physiological deletion of cells and appears to be intrinsically programmed. It is characterized by distinctive morphologic changes in the nucleus and cytoplasm, chromatin cleavage at regularly spaced sites, and the endonucleolytic cleavage of genomic DNA; (DNA FRAGMENTATION); at internucleosomal sites. This mode of cell death serves as a balance to mitosis in regulating the size of animal tissues and in mediating pathologic processes associated with tumor growth.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Histochemical localization of immunoreactive substances using labeled antibodies as reagents.
Enzymes that catalyze the hydrolysis of cyclic GMP to yield guanosine-5'-phosphate.
A genus of the family PARVOVIRIDAE, subfamily PARVOVIRINAE, which are dependent on a coinfection with helper adenoviruses or herpesviruses for their efficient replication. The type species is Adeno-associated virus 2.
A neurotrophic factor that promotes the survival of various neuronal cell types and may play an important role in the injury response in the nervous system.
The termination of the cell's ability to carry out vital functions such as metabolism, growth, reproduction, responsiveness, and adaptability.
The number of CELLS of a specific kind, usually measured per unit volume or area of sample.
Inbred C3H mice are a strain of laboratory mice that have been selectively bred to maintain a high degree of genetic uniformity and share specific genetic characteristics, including susceptibility to certain diseases, which makes them valuable for biomedical research purposes.
Any of the 23 plates of fibrocartilage found between the bodies of adjacent VERTEBRAE.
Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.
Electron microscopy in which the ELECTRONS or their reaction products that pass down through the specimen are imaged below the plane of the specimen.
A PROTEIN-SERINE-THREONINE KINASE that is found in PHOTORECEPTOR CELLS. It mediates light-dependent PHOSPHORYLATION of RHODOPSIN and plays an important role in PHOTOTRANSDUCTION.
Proteins that originate from insect species belonging to the genus DROSOPHILA. The proteins from the most intensely studied species of Drosophila, DROSOPHILA MELANOGASTER, are the subject of much interest in the area of MORPHOGENESIS and development.
An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness.
A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.
Introduction of substances into the body using a needle and syringe.
The bridge between the inner and the outer segments of a retinal rod or a cone photoreceptor cell. Through it, proteins synthesized in the inner segment are transported to the outer segment.
The blood vessels which supply and drain the RETINA.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.
The organ of sight constituting a pair of globular organs made up of a three-layered roughly spherical structure specialized for receiving and responding to light.
The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time.
The conversion of absorbed light energy into molecular signals.
The administration of substances into the VITREOUS BODY of the eye with a hypodermic syringe.
Populations of thin, motile processes found covering the surface of ciliates (CILIOPHORA) or the free surface of the cells making up ciliated EPITHELIUM. Each cilium arises from a basic granule in the superficial layer of CYTOPLASM. The movement of cilia propels ciliates through the liquid in which they live. The movement of cilia on a ciliated epithelium serves to propel a surface layer of mucus or fluid. (King & Stansfield, A Dictionary of Genetics, 4th ed)
The transparent, semigelatinous substance that fills the cavity behind the CRYSTALLINE LENS of the EYE and in front of the RETINA. It is contained in a thin hyaloid membrane and forms about four fifths of the optic globe.
A family of fresh water fish in the order CHARACIFORMES, which includes the Tetras.
Biochemical identification of mutational changes in a nucleotide sequence.
Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.
A nitrosourea compound with alkylating, carcinogenic, and mutagenic properties.
Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed)
Protein analogs and derivatives of the Aequorea victoria green fluorescent protein that emit light (FLUORESCENCE) when excited with ULTRAVIOLET RAYS. They are used in REPORTER GENES in doing GENETIC TECHNIQUES. Numerous mutants have been made to emit other colors or be sensitive to pH.
Techniques and strategies which include the use of coding sequences and other conventional or radical means to transform or modify cells for the purpose of treating or reversing disease conditions.
The non-neuronal cells of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu, participate in the BLOOD-BRAIN BARRIER and BLOOD-RETINAL BARRIER, form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons. Neuroglia have high-affinity transmitter uptake systems, voltage-dependent and transmitter-gated ion channels, and can release transmitters, but their role in signaling (as in many other functions) is unclear.
A pathological process consisting of the formation of new blood vessels in the CHOROID.
Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures.
A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.
NEURONS in the inner nuclear layer of the RETINA that synapse with both the RETINAL PHOTORECEPTOR CELLS and the RETINAL BIPOLAR CELLS, as well as other horizontal cells. The horizontal cells modulate the sensory signal.
A light microscopic technique in which only a small spot is illuminated and observed at a time. An image is constructed through point-by-point scanning of the field in this manner. Light sources may be conventional or laser, and fluorescence or transmitted observations are possible.
Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes.
The third type of glial cell, along with astrocytes and oligodendrocytes (which together form the macroglia). Microglia vary in appearance depending on developmental stage, functional state, and anatomical location; subtype terms include ramified, perivascular, ameboid, resting, and activated. Microglia clearly are capable of phagocytosis and play an important role in a wide spectrum of neuropathologies. They have also been suggested to act in several other roles including in secretion (e.g., of cytokines and neural growth factors), in immunological processing (e.g., antigen presentation), and in central nervous system development and remodeling.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues.
Failure or imperfection of vision at night or in dim light, with good vision only on bright days. (Dorland, 27th ed)
A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.
Neuronal calcium sensor proteins that regulate the activation of membrane-bound GUANYLATE CYCLASE. They are primarily expressed in the RETINA where they play an important role in PHOTOTRANSDUCTION.
A strain of albino rat used widely for experimental purposes because of its calmness and ease of handling. It was developed by the Sprague-Dawley Animal Company.
Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Retinal detachment occurs more commonly in men than in women, in eyes with degenerative myopia, in aging and in aphakia. It may occur after an uncomplicated cataract extraction, but it is seen more often if vitreous humor has been lost during surgery. (Dorland, 27th ed; Newell, Ophthalmology: Principles and Concepts, 7th ed, p310-12).
Genes that are introduced into an organism using GENE TRANSFER TECHNIQUES.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen.
Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, WOLVES; FOXES; and other Canidae for which the heading CARNIVORA is used.
Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium.
An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.
Measurement of the various properties of light.
The span of viability of a cell characterized by the capacity to perform certain functions such as metabolism, growth, reproduction, some form of responsiveness, and adaptability.
A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))
The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.
Transport proteins that carry specific substances in the blood or across cell membranes.
A bile salt formed in the liver by conjugation of chenodeoxycholate with taurine, usually as the sodium salt. It acts as detergent to solubilize fats in the small intestine and is itself absorbed. It is used as a cholagogue and choleretic.
The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
Geological formations consisting of underground enclosures with access from the surface.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
Function of the human eye that is used in dim illumination (scotopic intensities) or at nighttime. Scotopic vision is performed by RETINAL ROD PHOTORECEPTORS with high sensitivity to light and peak absorption wavelength at 507 nm near the blue end of the spectrum.
Photosensitive protein complexes of varied light absorption properties which are expressed in the PHOTORECEPTOR CELLS. They are OPSINS conjugated with VITAMIN A-based chromophores. Chromophores capture photons of light, leading to the activation of opsins and a biochemical cascade that ultimately excites the photoreceptor cells.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
A nitrosourea compound with alkylating, carcinogenic, and mutagenic properties.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
The domestic dog, Canis familiaris, comprising about 400 breeds, of the carnivore family CANIDAE. They are worldwide in distribution and live in association with people. (Walker's Mammals of the World, 5th ed, p1065)
An individual in which both alleles at a given locus are identical.
Inbred BALB/c mice are a strain of laboratory mice that have been selectively bred to be genetically identical to each other, making them useful for scientific research and experiments due to their consistent genetic background and predictable responses to various stimuli or treatments.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
The 2nd cranial nerve which conveys visual information from the RETINA to the brain. The nerve carries the axons of the RETINAL GANGLION CELLS which sort at the OPTIC CHIASM and continue via the OPTIC TRACTS to the brain. The largest projection is to the lateral geniculate nuclei; other targets include the SUPERIOR COLLICULI and the SUPRACHIASMATIC NUCLEI. Though known as the second cranial nerve, it is considered part of the CENTRAL NERVOUS SYSTEM.
I'm sorry for any confusion, but "Yemen" is not a medical term and does not have a medical definition. Yemen is a country located in the southern part of the Arabian Peninsula, in Western Asia. If you have any questions related to medical conditions, symptoms, or terminology, I would be happy to help clarify those for you.
The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the NERVOUS SYSTEM.
Diseases affecting the eye.
Ceruloplasmin is a blue copper-containing protein primarily synthesized in the liver, functioning as a ferroxidase enzyme involved in iron homeostasis and contributing to copper transportation in the body.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Elements of limited time intervals, contributing to particular results or situations.
Nerve fibers that are capable of rapidly conducting impulses away from the neuron cell body.
Visual impairments limiting one or more of the basic functions of the eye: visual acuity, dark adaptation, color vision, or peripheral vision. These may result from EYE DISEASES; OPTIC NERVE DISEASES; VISUAL PATHWAY diseases; OCCIPITAL LOBE diseases; OCULAR MOTILITY DISORDERS; and other conditions (From Newell, Ophthalmology: Principles and Concepts, 7th ed, p132).
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
Refers to animals in the period of time just after birth.
A flavoprotein that functions as a powerful antioxidant in the MITOCHONDRIA and promotes APOPTOSIS when released from the mitochondria. In mammalian cells AIF is released in response to pro-apoptotic protein members of the bcl-2 protein family. It translocates to the CELL NUCLEUS and binds DNA to stimulate CASPASE-independent CHROMATIN condensation.
The production of a dense fibrous network of neuroglia; includes astrocytosis, which is a proliferation of astrocytes in the area of a degenerative lesion.
A long pro-domain caspase that contains a caspase recruitment domain in its pro-domain region. Caspase 12 is activated by pro-apoptotic factors that are released during cell stress and by CARD SIGNALING ADAPTOR PROTEINS. It activates APOPTOSIS by cleaving and activating EFFECTOR CASPASES.
Techniques used to add in exogenous gene sequence such as mutated genes; REPORTER GENES, to study mechanisms of gene expression; or regulatory control sequences, to study effects of temporal changes to GENE EXPRESSION.
Drugs intended to prevent damage to the brain or spinal cord from ischemia, stroke, convulsions, or trauma. Some must be administered before the event, but others may be effective for some time after. They act by a variety of mechanisms, but often directly or indirectly minimize the damage produced by endogenous excitatory amino acids.
The process by which chemical compounds provide protection to cells against harmful agents.
A phosphoinositide phospholipase C subtype that is primarily regulated by its association with HETEROTRIMERIC G-PROTEINS. It is structurally related to PHOSPHOLIPASE C DELTA with the addition of C-terminal extension of 400 residues.
An intermediate filament protein found only in glial cells or cells of glial origin. MW 51,000.
INTERNEURONS of the vertebrate RETINA. They integrate, modulate, and interpose a temporal domain in the visual message presented to the RETINAL GANGLION CELLS, with which they synapse in the inner plexiform layer.
Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene.
A disturbance in the prooxidant-antioxidant balance in favor of the former, leading to potential damage. Indicators of oxidative stress include damaged DNA bases, protein oxidation products, and lipid peroxidation products (Sies, Oxidative Stress, 1991, pxv-xvi).
DNA molecules capable of autonomous replication within a host cell and into which other DNA sequences can be inserted and thus amplified. Many are derived from PLASMIDS; BACTERIOPHAGES; or VIRUSES. They are used for transporting foreign genes into recipient cells. Genetic vectors possess a functional replicator site and contain GENETIC MARKERS to facilitate their selective recognition.
A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
A class of enzymes that catalyze the hydrolysis of one of the two ester bonds in a phosphodiester compound. EC 3.1.4.
Microscopy of specimens stained with fluorescent dye (usually fluorescein isothiocyanate) or of naturally fluorescent materials, which emit light when exposed to ultraviolet or blue light. Immunofluorescence microscopy utilizes antibodies that are labeled with fluorescent dye.
A technique that localizes specific nucleic acid sequences within intact chromosomes, eukaryotic cells, or bacterial cells through the use of specific nucleic acid-labeled probes.
The total area or space visible in a person's peripheral vision with the eye looking straightforward.
The magnitude of INBREEDING in humans.
Any method used for determining the location of and relative distances between genes on a chromosome.
Cerebellar degeneration associated with a remote neoplasm. Clinical manifestations include progressive limb and GAIT ATAXIA; DYSARTHRIA; and NYSTAGMUS, PATHOLOGIC. The histologic type of the associated neoplasm is usually carcinoma or lymphoma. Pathologically the cerebellar cortex and subcortical nuclei demonstrate diffuse degenerative changes. Anti-Purkinje cell antibodies (anti-Yo) are found in the serum of approximately 50% of affected individuals. (Adams et al., Principles of Neurology, 6th ed, p686)
Function of the human eye that is used in bright illumination or in daylight (at photopic intensities). Photopic vision is performed by the three types of RETINAL CONE PHOTORECEPTORS with varied peak absorption wavelengths in the color spectrum (from violet to red, 400 - 700 nm).
An exotic species of the family CYPRINIDAE, originally from Asia, that has been introduced in North America. They are used in embryological studies and to study the effects of certain chemicals on development.
Non-human animals, selected because of specific characteristics, for use in experimental research, teaching, or testing.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
A neuropathy due to VITAMIN B 12 DEFICIENCY or to excessive NITROUS OXIDE inhalation. It is associated with overproduction of the myelinolytic TUMOR NECROSIS FACTOR-ALPHA.
The process of moving proteins from one cellular compartment (including extracellular) to another by various sorting and transport mechanisms such as gated transport, protein translocation, and vesicular transport.
Method of measuring and mapping the scope of vision, from central to peripheral of each eye.
Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.
A group of tetraterpenes, with four terpene units joined head-to-tail. Biologically active members of this class are used clinically in the treatment of severe cystic ACNE; PSORIASIS; and other disorders of keratinization.
The introduction of functional (usually cloned) GENES into cells. A variety of techniques and naturally occurring processes are used for the gene transfer such as cell hybridization, LIPOSOMES or microcell-mediated gene transfer, ELECTROPORATION, chromosome-mediated gene transfer, TRANSFECTION, and GENETIC TRANSDUCTION. Gene transfer may result in genetically transformed cells and individual organisms.
The absence of light.
A subcategory of chaperonins found in ARCHAEA and the CYTOSOL of eukaryotic cells. Group II chaperonins form a barrel-shaped macromolecular structure that is distinct from GROUP I CHAPERONINS in that it does not utilize a separate lid like structure to enclose proteins.
Regulatory proteins that down-regulate phosphorylated G-protein membrane receptors, including rod and cone photoreceptors and adrenergic receptors.
A large superfamily of transcription factors that contain a region rich in BASIC AMINO ACID residues followed by a LEUCINE ZIPPER domain.
A conditionally essential nutrient, important during mammalian development. It is present in milk but is isolated mostly from ox bile and strongly conjugates bile acids.
A form of MACULAR DEGENERATION also known as dry macular degeneration marked by occurrence of a well-defined progressive lesion or atrophy in the central part of the RETINA called the MACULA LUTEA. It is distinguishable from WET MACULAR DEGENERATION in that the latter involves neovascular exudates.
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.
Proteins to which calcium ions are bound. They can act as transport proteins, regulator proteins, or activator proteins. They typically contain EF HAND MOTIFS.
An INTERVERTEBRAL DISC in which the nucleus pulposus has protruded through surrounding fibrocartilage. This occurs most frequently in the lower lumbar region.
A plant genus of the LAMIACEAE family. It is known as a spice and medicinal plant.
The founding member of the glial cell line-derived neurotrophic factor family. It was originally characterized as a NERVE GROWTH FACTOR promoting the survival of MIDBRAIN dopaminergic NEURONS, and it has been studied as a potential treatment for PARKINSON DISEASE.

Expression patterns of neurturin and its receptor components in developing and degenerative mouse retina. (1/1798)

PURPOSE: Neurturin (NTN) and its receptor components (GFRalpha2 and Ret) play an important role in the survival of different populations of neurons in the central and peripheral nervous systems. To gain insight into their possible functions throughout normal retinal development and during retinal neuronal apoptosis, the retinal distribution of expression of NTN and GFRalpha2 mRNAs and Ret protein were compared in control and retinal degeneration (rd) mice. METHODS: Eyes from control and rd animals were fixed in paraformaldehyde before sectioning. For in situ hybridization, retinal sections were hybridized with 35S-radiolabeled sense and antisense riboprobes for murine NTN and GFRalpha2 and were autoradiographed. Ret localization was detected by immunofluorescence. RESULTS: Neurturin mRNA expression was modulated through normal postnatal retinal development and was localized primarily to the inner retina and photoreceptor outer segments. GFRalpha2 mRNA displayed a diffuse developmental pattern of expression, but in the mature normal retina, NTN and GFRalpha2 mRNAs were more closely colocalized. Ret protein was localized particularly at the outer segments of photoreceptors, inner retina, and ganglion cell layers, but there were no prominent differences among genotypes. Increased NTN mRNA expression was detected in the retinal pigment epithelium and neural retina in concert with photoreceptor degeneration in rd mouse. In contrast, the level of GFRalpha2 mRNA was lower in rd compared with that in normal retina. CONCLUSIONS: These results suggest that NTN and its receptor are involved in retinal postnatal development and maintenance and that alterations in their transcription patterns are associated with inherited retinal degeneration.  (+info)

Riluzole improves functional recovery after ischemia in the rat retina. (2/1798)

PURPOSE: Retinal ischemia leads to neuronal death. The effects of riluzole, a drug that protects against the deleterious effect of cerebral ischemia by acting on several types of ion channels and blocking glutamatergic neurotransmission, were investigated in a rat model of retinal ischemic injury. METHODS: Retinal ischemia was induced by increasing intraocular pressure above systolic blood pressure for 30 minutes. Electroretinograms were recorded before ischemia and at different periods of reperfusion. Riluzole was injected or topically applied to the eye before or after ischemia and twice daily during the reperfusion period. Retinas were harvested for histopathology (toluidine blue and silver-impregnation stainings, Tdt-dUTP terminal nick-end labeling [TUNEL] method) and immunohistochemistry for cytoskeletal glial fibrillary acid protein and c-jun NH2-terminal kinase (p-JNK). RESULTS: Ischemia for 30 minutes caused a reduction of a- and b-waves of the electroretinogram. Systemic and topical treatments with riluzole significantly enhanced the recovery of the reduced a- and b-waves after defined reperfusion times. Riluzole also prevented or attenuated ischemia-induced retinal cell death (necrosis and apoptosis) and reduced the activation of p-JNK, c-jun phosphorylation, and the increase of cytoskeletal proteins induced by ischemic injury. CONCLUSIONS: Riluzole acted in vivo as a potent neuroprotective agent against pressure-induced ischemia. Therefore, riluzole may be a major drug for use in protection against retinal injury.  (+info)

Intravitreous transplantation of encapsulated fibroblasts secreting the human fibroblast growth factor 2 delays photoreceptor cell degeneration in Royal College of Surgeons rats. (3/1798)

We developed an experimental approach with genetically engineered and encapsulated mouse NIH 3T3 fibroblasts to delay the progressive degeneration of photoreceptor cells in dark-eyed Royal College of Surgeons rats. These xenogeneic fibroblasts can survive in 1. 5-mm-long microcapsules made of the biocompatible polymer AN69 for at least 90 days under in vitro and in vivo conditions because of their stable transfection with the gene for the 18-kDa form of the human basic fibroblast growth factor (hFGF-2). Furthermore, when transferred surgically into the vitreous cavity of 21-day-old Royal College of Surgeons rats, the microencapsulated hFGF-2-secreting fibroblasts provoked a local delay of photoreceptor cell degeneration, as seen at 45 days and 90 days after transplantation. This effect was limited to 2.08 mm2 (45 days) and 0.95 mm2 (90 days) of the retinal surface. In both untreated eyes and control globes with encapsulated hFGF-2-deficient fibroblasts, the rescued area (of at most 0.08 mm2) was significantly smaller at both time points. Although, in a few ocular globes, surgical trauma induced a reorganization of the retinal cytoarchitecture, neither microcapsule rejection nor hFGF-2-mediated tumor formation were detected in any treated eyes. These findings indicate that encapsulated fibroblasts secreting hFGF-2 or perhaps other agents can be applied as potential therapeutic tools to treat retinal dystrophies.  (+info)

Increased susceptibility to constant light in nr and pcd mice with inherited retinal degenerations. (4/1798)

PURPOSE: To determine whether the degenerating photoreceptors in nervous (nr/nr) and Purkinje cell degeneration (pcd/pcd) mutant mice are more susceptible to the damaging effects of constant light than those in age-matched normal mice. METHODS: Beginning at two ages for each mutant, albino nr/nr and pcd/pcd mice were placed into constant fluorescent light at an illuminance of 115 foot-candles to 130 foot-candles for a period of 1 week. Age-matched (usually littermate) normal (+/-) mice were exposed at the same time. The degree of photoreceptor cell loss was quantified histologically by obtaining a mean outer nuclear layer thickness for each animal. The light-exposed mice were compared with age-matched mutant and normal mice that were maintained in cyclic light. RESULTS: The homozygous mutants at each age showed a significantly greater loss of photoreceptor cells caused by constant light exposure than did the normal +/- mice in the same period of light exposure. The nr/nr and pcd/pcd mutants lost two to three times the number of photoreceptor cells than did the +/- mice during the constant light exposure. CONCLUSIONS: It has long been thought that excessive light may be harmful to patients with inherited or age-related photoreceptor degenerations. The present data add to other experimental evidence suggesting that photoreceptors already undergoing inherited or other forms of degeneration may be particularly susceptible to the damaging effects of excessive light.  (+info)

Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland. (5/1798)

X-linked juvenile retinoschisis (RS) is a recessively inherited disorder causing progressive vitreoretinal degeneration in males. The gene defective in retinoschisis, XLRS1, has recently been identified and characterised. This gene consists of six exons encoding a protein with a putative role in cell-cell adhesion and phospholipid binding. Juvenile retinoschisis has been actively studied in Finland over the past 30 years, with over 300 diagnosed RS patients. Based on genealogical studies, approximately 70% of the Finnish RS patients originate from Western Finland and 20% from Northern Finland. In this study, one third of the known Finnish RS patients were screened for mutations of the XLRS1 gene. Haplotype analysis, using nine microsatellite markers spanning 1 cM in Xp22.2, suggested the segregation of eight different mutations in these families. To identify mutations, the six exons were amplified by PCR and analysed by single strand conformation analysis, followed by direct sequencing of the PCR products. We identified seven distinct missense mutations, all in exons 4 and 6. The mutations in exon 4, 214G > A and 221G > T, are accountable for RS in Western Finland. A third mutation in exon 4, 325G > C, gives rise to RS in Northern Finland. These three founder mutations are the predominant cause of RS in Finland and their existence explains the high incidence of the disease. The identification of mutations common in genetically isolated populations, such as Finland, allows the diagnosis of patients with an atypical RS phenotype and enables nationwide carrier testing and improved genetic counselling.  (+info)

Functional protection of photoreceptors from light-induced damage by dimethylthiourea and Ginkgo biloba extract. (6/1798)

PURPOSE: To investigate the functional protective effect of a synthetic (dimethylthiourea, DMTU) and a natural antioxidant (Ginkgo biloba extract, EGb 761) against light-induced retinal degeneration. METHODS: Wistar rats were exposed for 24 hours to 1700-lux light after treatment with DMTU or EGb 761. Electroretinograms were recorded before and on day (D)1, D3, D8, D15, D22, and D29 after light exposure. The b-wave amplitude was plotted against log L (ganzfeld luminance), providing the b-wave sensitivity curve. The Naka-Rushton function fitted to the sensitivity curve enabled derivation of the parameters Bmax (saturated amplitude) and K (luminance-inducing Bmax/2). In addition, rats from each group were killed for retinal morphometric analyses. RESULTS: In the untreated group, light exposure caused collapse of the b-wave sensitivity curves. Bmax was reduced by 51% at D1 without subsequent recovery. K increased temporarily, reverting to normal values 8 days later. The outer nuclear layer thicknesses decreased markedly in the superior retina. In the treated groups, light exposure had a weaker effect on sensitivity curves. The values of Bmax were not significantly different from those in the unexposed-untreated group, although K increased temporarily. Retinal morphometry was preserved. CONCLUSIONS: Dimethylthiourea and EGb 761 afford functional protection against light-induced retinal damage.  (+info)

Evaluation of the APOH gene as a positional candidate for prcd in dogs. (7/1798)

PURPOSE: Progressive rod-cone degeneration (prcd) is an autosomal recessive retinal degeneration of dogs characterized by abnormalities in lipid metabolism. It has recently been mapped to the centromeric region of canine chromosome 9, homologous to human 17q, which contains the apolipoprotein H (apoH, protein; APOH, gene) gene involved in lipid metabolism and regulation of triglycerides. The present study was undertaken to evaluate APOH as a positional candidate for prcd. METHODS: Expression of APOH in the retina was examined by reverse transcription-polymerase chain reaction (RT-PCR) and by immunocytochemistry in normal and prcd-affected dogs. The level of apoH in the plasma was determined by western blot analysis. Intragenic polymorphic markers were identified and typed in the prcd pedigree. Canine-rodent hybrid cell lines were analyzed to detect canine APOH. RESULTS: ApoH has been localized to the photoreceptor outer segment layer by immunocytochemistry. Its expression in the retina of normal and prcd-affected dogs was confirmed by RT-PCR. The levels of antihuman apoH cross-reacting material in plasma were similar in all dogs, regardless of disease status. Finally, linkage analysis of the APOH gene with the disease locus in the prcd pedigree detected 3 recombinants among 70 informative offsprings (lod score 15.09 at 0 = 4.3 centimorgan [cM]). CONCLUSIONS: APOH is expressed in the retina and tightly linked to the prcd locus. However, despite its potential role in phenotypes of abnormal lipid metabolism associated with prcd, the gene has been excluded as a primary candidate for prcd by linkage analysis.  (+info)

Repeated injections of a ciliary neurotrophic factor analogue leading to long-term photoreceptor survival in hereditary retinal degeneration. (8/1798)

PURPOSE: To determine whether ciliary neurotrophic factor (CNTF) or brain-derived neurotrophic factor (BDNF) treatment leads to long-term photoreceptor survival in hereditary retinal degeneration. METHODS: An autosomal dominant feline model of rod-cone dystrophy was used throughout the study with two normal animals. In the first experiment, intravitreal injections of a human CNTF analogue (Axokine; Regeneron Pharmaceuticals, Tarrytown, NY) were administered to one eye of each animal (n = 10) beginning on postnatal day 10 and were repeated every 4 weeks. Clinical and histopathologic examinations were performed at 5.5, 9.5, and 13.5 weeks. In the second experiment, animals (n = 17) were randomly assigned to receive intravitreal injections of either Axokine (at half the initial dose), human BDNF, or the vehicle for Axokine to one eye at 5.5 weeks. The same therapy was repeated every 4 weeks in each group. Clinical and histopathologic examinations were performed at 9.5, 13.5, and 17.5 weeks. Photoreceptor survival was assessed by cell counting. Apoptotic cells were identified by morphology and a modified TdT-dUTP terminal nick-end labeling (TUNEL) technique. In the third experiment, two normal animals were treated with Axokine as in the first experiment. Glial fibrillary acidic protein ((GFAP) immunohistochemistry was performed to assess glial cell reaction. RESULTS: In the first two experiments, Axokine significantly prolonged photoreceptor survival (P < 0.01) and reduced the presence of apoptotic cells (P < 0.05) and TUNEL-positive cells (P < 0.05). In the second experiment, results in the the BDNF- and sham-injected eyes were not significantly different from those in the untreated eyes. Minimal posterior subcapsular cataract and mild retinal folds were found in all Axokine-treated eyes in both dystrophic and normal animals. These complications were milder in the second experiment when injections were started later and at a reduced dose. GFAP immunolabeling was also increased in all Axokine-treated eyes. CONCLUSIONS: Axokine, but not BDNF, delays photoreceptor loss in this hereditary retinal degeneration. Repeated injections maintain the protective effect.  (+info)

Retinal degeneration is a broad term that refers to the progressive loss of photoreceptor cells (rods and cones) in the retina, which are responsible for converting light into electrical signals that are sent to the brain. This process can lead to vision loss or blindness. There are many different types of retinal degeneration, including age-related macular degeneration, retinitis pigmentosa, and Stargardt's disease, among others. These conditions can have varying causes, such as genetic mutations, environmental factors, or a combination of both. Treatment options vary depending on the specific type and progression of the condition.

Photoreceptor cells in vertebrates are specialized types of neurons located in the retina of the eye that are responsible for converting light stimuli into electrical signals. These cells are primarily responsible for the initial process of vision and have two main types: rods and cones.

Rods are more numerous and are responsible for low-light vision or scotopic vision, enabling us to see in dimly lit conditions. They do not contribute to color vision but provide information about the shape and movement of objects.

Cones, on the other hand, are less numerous and are responsible for color vision and high-acuity vision or photopic vision. There are three types of cones, each sensitive to different wavelengths of light: short (S), medium (M), and long (L) wavelengths, which correspond to blue, green, and red, respectively. The combination of signals from these three types of cones allows us to perceive a wide range of colors.

Both rods and cones contain photopigments that consist of a protein called opsin and a light-sensitive chromophore called retinal. When light hits the photopigment, it triggers a series of chemical reactions that ultimately lead to the generation of an electrical signal that is transmitted to the brain via the optic nerve. This process enables us to see and perceive our visual world.

Electroretinography (ERG) is a medical test used to evaluate the functioning of the retina, which is the light-sensitive tissue located at the back of the eye. The test measures the electrical responses of the retina to light stimulation.

During the procedure, a special contact lens or electrode is placed on the surface of the eye to record the electrical activity generated by the retina's light-sensitive cells (rods and cones) and other cells in the retina. The test typically involves presenting different levels of flashes of light to the eye while the electrical responses are recorded.

The resulting ERG waveform provides information about the overall health and function of the retina, including the condition of the photoreceptors, the integrity of the inner retinal layers, and the health of the retinal ganglion cells. This test is often used to diagnose and monitor various retinal disorders, such as retinitis pigmentosa, macular degeneration, and diabetic retinopathy.

Retinitis pigmentosa (RP) is a group of rare, genetic disorders that involve a breakdown and loss of cells in the retina - a light-sensitive tissue located at the back of the eye. The retina converts light into electrical signals which are then sent to the brain and interpreted as visual images.

In RP, the cells that detect light (rods and cones) degenerate more slowly than other cells in the retina, leading to a progressive loss of vision. Symptoms typically begin in childhood with night blindness (difficulty seeing in low light), followed by a gradual narrowing of the visual field (tunnel vision). Over time, this can lead to significant vision loss and even blindness.

The condition is usually inherited and there are several different genes that have been associated with RP. The diagnosis is typically made based on a combination of genetic testing, family history, and clinical examination. Currently, there is no cure for RP, but researchers are actively working to develop new treatments that may help slow or stop the progression of the disease.

The retina is the innermost, light-sensitive layer of tissue in the eye of many vertebrates and some cephalopods. It receives light that has been focused by the cornea and lens, converts it into neural signals, and sends these to the brain via the optic nerve. The retina contains several types of photoreceptor cells including rods (which handle vision in low light) and cones (which are active in bright light and are capable of color vision).

In medical terms, any pathological changes or diseases affecting the retinal structure and function can lead to visual impairment or blindness. Examples include age-related macular degeneration, diabetic retinopathy, retinal detachment, and retinitis pigmentosa among others.

Macular degeneration, also known as age-related macular degeneration (AMD), is a medical condition that affects the central part of the retina, called the macula. The macula is responsible for sharp, detailed vision, which is necessary for activities such as reading, driving, and recognizing faces.

In AMD, there is a breakdown or deterioration of the macula, leading to gradual loss of central vision. There are two main types of AMD: dry (atrophic) and wet (exudative). Dry AMD is more common and progresses more slowly, while wet AMD is less common but can cause rapid and severe vision loss if left untreated.

The exact causes of AMD are not fully understood, but risk factors include age, smoking, family history, high blood pressure, obesity, and exposure to sunlight. While there is no cure for AMD, treatments such as vitamin supplements, laser therapy, and medication injections can help slow its progression and reduce the risk of vision loss.

Rhodopsin, also known as visual purple, is a light-sensitive pigment found in the rods of the vertebrate retina. It is a complex protein molecule made up of two major components: an opsin protein and retinal, a form of vitamin A. When light hits the retinal in rhodopsin, it changes shape, which initiates a series of chemical reactions leading to the activation of the visual pathway and ultimately results in vision. This process is known as phototransduction. Rhodopsin plays a crucial role in low-light vision or scotopic vision.

Nerve degeneration, also known as neurodegeneration, is the progressive loss of structure and function of neurons, which can lead to cognitive decline, motor impairment, and various other symptoms. This process occurs due to a variety of factors, including genetics, environmental influences, and aging. It is a key feature in several neurological disorders such as Alzheimer's disease, Parkinson's disease, Huntington's disease, and multiple sclerosis. The degeneration can affect any part of the nervous system, leading to different symptoms depending on the location and extent of the damage.

Eye proteins, also known as ocular proteins, are specific proteins that are found within the eye and play crucial roles in maintaining proper eye function and health. These proteins can be found in various parts of the eye, including the cornea, iris, lens, retina, and other structures. They perform a wide range of functions, such as:

1. Structural support: Proteins like collagen and elastin provide strength and flexibility to the eye's tissues, enabling them to maintain their shape and withstand mechanical stress.
2. Light absorption and transmission: Proteins like opsins and crystallins are involved in capturing and transmitting light signals within the eye, which is essential for vision.
3. Protection against damage: Some eye proteins, such as antioxidant enzymes and heat shock proteins, help protect the eye from oxidative stress, UV radiation, and other environmental factors that can cause damage.
4. Regulation of eye growth and development: Various growth factors and signaling molecules, which are protein-based, contribute to the proper growth, differentiation, and maintenance of eye tissues during embryonic development and throughout adulthood.
5. Immune defense: Proteins involved in the immune response, such as complement components and immunoglobulins, help protect the eye from infection and inflammation.
6. Maintenance of transparency: Crystallin proteins in the lens maintain its transparency, allowing light to pass through unobstructed for clear vision.
7. Neuroprotection: Certain eye proteins, like brain-derived neurotrophic factor (BDNF), support the survival and function of neurons within the retina, helping to preserve vision.

Dysfunction or damage to these eye proteins can contribute to various eye disorders and diseases, such as cataracts, age-related macular degeneration, glaucoma, diabetic retinopathy, and others.

Photoreceptor cells are specialized neurons in the retina of the eye that convert light into electrical signals. These cells consist of two types: rods and cones. Rods are responsible for vision at low light levels and provide black-and-white, peripheral, and motion sensitivity. Cones are active at higher light levels and are capable of color discrimination and fine detail vision. Both types of photoreceptor cells contain light-sensitive pigments that undergo chemical changes when exposed to light, triggering a series of electrical signals that ultimately reach the brain and contribute to visual perception.

Retinal rod photoreceptor cells are specialized neurons in the retina of the eye that are primarily responsible for vision in low light conditions. They contain a light-sensitive pigment called rhodopsin, which undergoes a chemical change when struck by a single photon of light. This triggers a cascade of biochemical reactions that ultimately leads to the generation of electrical signals, which are then transmitted to the brain via the optic nerve.

Rod cells do not provide color vision or fine detail, but they allow us to detect motion and see in dim light. They are more sensitive to light than cone cells, which are responsible for color vision and detailed sight in bright light conditions. Rod cells are concentrated at the outer edges of the retina, forming a crescent-shaped region called the peripheral retina, with fewer rod cells located in the central region of the retina known as the fovea.

Peripherins are a family of neuron-specific type III intermediate filament proteins that are expressed in the peripheral nervous system. They play crucial roles in maintaining the structural integrity and stability of nerve cells, particularly during development and regeneration. Peripherins have also been implicated in various neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS) and Charcot-Marie-Tooth disease (CMT). There are several isoforms of peripherins, with peripherin 2 being the most widely studied. Mutations in the gene encoding peripherin 2 have been linked to certain forms of CMT.

Cyclic nucleotide phosphodiesterases (PDEs) are a family of enzymes that play a crucial role in regulating intracellular levels of cyclic nucleotides, which are important second messengers in various cellular signaling pathways. Among the different types of PDEs, type 6 (PDE6) is specifically expressed in the photoreceptor cells of the retina and is involved in the visual signal transduction cascade.

PDE6 is composed of two catalytic subunits, PDE6α and PDE6β, which are arranged in a heterodimeric complex. These subunits have distinct roles in the enzyme's activity: PDE6α contains the catalytic site that hydrolyzes cyclic guanosine monophosphate (cGMP) to GMP, while PDE6β regulates the activity of PDE6α through its inhibitory γ subunit.

In the visual signal transduction pathway, light stimulation leads to the activation of rhodopsin, which triggers a cascade of events that ultimately results in the hydrolysis of cGMP by PDE6. This reduction in cGMP levels causes the closure of cyclic nucleotide-gated channels in the plasma membrane, leading to hyperpolarization of the photoreceptor cells and the transmission of visual signals to the brain.

Defects in PDE6 have been implicated in various retinal disorders, including congenital stationary night blindness, retinitis pigmentosa, and age-related macular degeneration. Therefore, understanding the structure and function of PDE6 is essential for developing novel therapeutic strategies to treat these vision-threatening diseases.

Wallerian degeneration is a process that occurs following damage to the axons of neurons (nerve cells). After an axon is severed or traumatically injured, it undergoes a series of changes including fragmentation and removal of the distal segment of the axon, which is the part that is separated from the cell body. This process is named after Augustus Waller, who first described it in 1850.

The degenerative changes in the distal axon are characterized by the breakdown of the axonal cytoskeleton, the loss of myelin sheath (the fatty insulating material that surrounds and protects the axon), and the infiltration of macrophages to clear away the debris. These events lead to the degeneration of the distal axon segment, which is necessary for successful regeneration of the injured nerve.

Wallerian degeneration is a crucial process in the nervous system's response to injury, as it enables the regrowth of axons and the reestablishment of connections between neurons. However, if the regenerative capacity of the neuron is insufficient or the environment is not conducive to growth, functional recovery may be impaired, leading to long-term neurological deficits.

Animal disease models are specialized animals, typically rodents such as mice or rats, that have been genetically engineered or exposed to certain conditions to develop symptoms and physiological changes similar to those seen in human diseases. These models are used in medical research to study the pathophysiology of diseases, identify potential therapeutic targets, test drug efficacy and safety, and understand disease mechanisms.

The genetic modifications can include knockout or knock-in mutations, transgenic expression of specific genes, or RNA interference techniques. The animals may also be exposed to environmental factors such as chemicals, radiation, or infectious agents to induce the disease state.

Examples of animal disease models include:

1. Mouse models of cancer: Genetically engineered mice that develop various types of tumors, allowing researchers to study cancer initiation, progression, and metastasis.
2. Alzheimer's disease models: Transgenic mice expressing mutant human genes associated with Alzheimer's disease, which exhibit amyloid plaque formation and cognitive decline.
3. Diabetes models: Obese and diabetic mouse strains like the NOD (non-obese diabetic) or db/db mice, used to study the development of type 1 and type 2 diabetes, respectively.
4. Cardiovascular disease models: Atherosclerosis-prone mice, such as ApoE-deficient or LDLR-deficient mice, that develop plaque buildup in their arteries when fed a high-fat diet.
5. Inflammatory bowel disease models: Mice with genetic mutations affecting intestinal barrier function and immune response, such as IL-10 knockout or SAMP1/YitFc mice, which develop colitis.

Animal disease models are essential tools in preclinical research, but it is important to recognize their limitations. Differences between species can affect the translatability of results from animal studies to human patients. Therefore, researchers must carefully consider the choice of model and interpret findings cautiously when applying them to human diseases.

Retinal cone photoreceptor cells are specialized neurons located in the retina of the eye, responsible for visual phototransduction and color vision. They are one of the two types of photoreceptors, with the other being rods, which are more sensitive to low light levels. Cones are primarily responsible for high-acuity, color vision during daylight or bright-light conditions.

There are three types of cone cells, each containing different photopigments that absorb light at distinct wavelengths: short (S), medium (M), and long (L) wavelengths, which correspond to blue, green, and red light, respectively. The combination of signals from these three types of cones allows the human visual system to perceive a wide range of colors and discriminate between them. Cones are densely packed in the central region of the retina, known as the fovea, which provides the highest visual acuity.

In the context of medical terminology, "light" doesn't have a specific or standardized definition on its own. However, it can be used in various medical terms and phrases. For example, it could refer to:

1. Visible light: The range of electromagnetic radiation that can be detected by the human eye, typically between wavelengths of 400-700 nanometers. This is relevant in fields such as ophthalmology and optometry.
2. Therapeutic use of light: In some therapies, light is used to treat certain conditions. An example is phototherapy, which uses various wavelengths of ultraviolet (UV) or visible light for conditions like newborn jaundice, skin disorders, or seasonal affective disorder.
3. Light anesthesia: A state of reduced consciousness in which the patient remains responsive to verbal commands and physical stimulation. This is different from general anesthesia where the patient is completely unconscious.
4. Pain relief using light: Certain devices like transcutaneous electrical nerve stimulation (TENS) units have a 'light' setting, indicating lower intensity or frequency of electrical impulses used for pain management.

Without more context, it's hard to provide a precise medical definition of 'light'.

'Radiation injuries, experimental' is not a widely recognized medical term. However, in the field of radiation biology and medicine, it may refer to the study and understanding of radiation-induced damage using various experimental models (e.g., cell cultures, animal models) before applying this knowledge to human health situations. These experiments aim to investigate the effects of ionizing radiation on living organisms' biological processes, tissue responses, and potential therapeutic interventions. The findings from these studies contribute to the development of medical countermeasures, diagnostic tools, and treatment strategies for accidental or intentional radiation exposures in humans.

Cis-trans isomeres are molecules that have the same molecular formula and skeletal structure, but differ in the arrangement of their atoms around a double bond. In a cis isomer, the two larger groups or atoms are on the same side of the double bond, while in a trans isomer, they are on opposite sides.

Cis-trans isomerases are enzymes that catalyze the interconversion between cis and trans isomers of various molecules, such as fatty acids, steroids, and retinals. These enzymes play important roles in various biological processes, including membrane fluidity, vision, and the biosynthesis of hormones and other signaling molecules.

Examples of cis-trans isomerases include:

* Fatty acid desaturases, which introduce double bonds into fatty acids and can convert trans isomers to cis isomers
* Retinal isomerases, which interconvert the cis and trans isomers of retinal, a molecule involved in vision
* Steroid isomerases, which catalyze the interconversion of various steroids, including cholesterol and its derivatives.

Hereditary eye diseases refer to conditions that affect the eyes and are passed down from parents to their offspring through genetics. These diseases are caused by mutations or changes in an individual's DNA that are inherited from their parents. The mutations can occur in any of the genes associated with eye development, function, or health.

There are many different types of hereditary eye diseases, some of which include:

1. Retinitis Pigmentosa - a group of rare, genetic disorders that involve a breakdown and loss of cells in the retina.
2. Macular Degeneration - a progressive disease that damages the central portion of the retina, impairing vision.
3. Glaucoma - a group of eye conditions that damage the optic nerve, often caused by an increase in pressure inside the eye.
4. Cataracts - clouding of the lens inside the eye, which can lead to blurry vision and blindness.
5. Keratoconus - a progressive eye disease that causes the cornea to thin and bulge outward into a cone shape.
6. Color Blindness - a condition where an individual has difficulty distinguishing between certain colors.
7. Optic Neuropathy - damage to the optic nerve, which can result in vision loss.

The symptoms and severity of hereditary eye diseases can vary widely depending on the specific condition and the individual's genetic makeup. Some conditions may be present at birth or develop in early childhood, while others may not appear until later in life. Treatment options for these conditions may include medication, surgery, or lifestyle changes, and are often most effective when started early.

The retinal pigment epithelium (RPE) is a single layer of cells located between the photoreceptor cells of the retina and the choroid, which is a part of the eye containing blood vessels. The RPE plays a crucial role in maintaining the health and function of the photoreceptors by providing them with nutrients, removing waste products, and helping to regulate the light-sensitive visual pigments within the photoreceptors.

The RPE cells contain pigment granules that absorb excess light to prevent scattering within the eye and improve visual acuity. They also help to form the blood-retina barrier, which restricts the movement of certain molecules between the retina and the choroid, providing an important protective function for the retina.

Damage to the RPE can lead to a variety of eye conditions, including age-related macular degeneration (AMD), which is a leading cause of vision loss in older adults.

A "mutant strain of mice" in a medical context refers to genetically engineered mice that have specific genetic mutations introduced into their DNA. These mutations can be designed to mimic certain human diseases or conditions, allowing researchers to study the underlying biological mechanisms and test potential therapies in a controlled laboratory setting.

Mutant strains of mice are created through various techniques, including embryonic stem cell manipulation, gene editing technologies such as CRISPR-Cas9, and radiation-induced mutagenesis. These methods allow scientists to introduce specific genetic changes into the mouse genome, resulting in mice that exhibit altered physiological or behavioral traits.

These strains of mice are widely used in biomedical research because their short lifespan, small size, and high reproductive rate make them an ideal model organism for studying human diseases. Additionally, the mouse genome has been well-characterized, and many genetic tools and resources are available to researchers working with these animals.

Examples of mutant strains of mice include those that carry mutations in genes associated with cancer, neurodegenerative disorders, metabolic diseases, and immunological conditions. These mice provide valuable insights into the pathophysiology of human diseases and help advance our understanding of potential therapeutic interventions.

Dark adaptation is the process by which the eyes adjust to low levels of light. This process allows the eyes to become more sensitive to light and see better in the dark. It involves the dilation of the pupils, as well as chemical changes in the rods and cones (photoreceptor cells) of the retina. These changes allow the eye to detect even small amounts of light and improve visual acuity in low-light conditions. Dark adaptation typically takes several minutes to occur fully, but can be faster or slower depending on various factors such as age, prior exposure to light, and certain medical conditions. It is an important process for maintaining good vision in a variety of lighting conditions.

Opsins are a type of protein that are sensitive to light and play a crucial role in vision. They are found in the photoreceptor cells of the retina, which are the specialized cells in the eye that detect light. Opsins are activated by light, which triggers a series of chemical reactions that ultimately result in the transmission of a signal to the brain, allowing us to see.

There are several different types of opsins, including rhodopsin and the cone pigments, which are found in the rods and cones of the retina, respectively. Rhodopsin is responsible for dim-light vision, while the cone pigments are involved in color vision and bright-light vision.

Opsins belong to a larger family of proteins called G protein-coupled receptors (GPCRs), which are involved in many different physiological processes in the body. In addition to their role in vision, opsins have also been found to be involved in other light-dependent processes, such as the regulation of circadian rhythms and the entrainment of the biological clock.

Photoreceptor cells in invertebrates are specialized sensory neurons that convert light stimuli into electrical signals. These cells are primarily responsible for the ability of many invertebrates to detect and respond to light, enabling behaviors such as phototaxis (movement towards or away from light) and vision.

Invertebrate photoreceptor cells typically contain light-sensitive pigments that absorb light at specific wavelengths. The most common type of photopigment is rhodopsin, which consists of a protein called opsin and a chromophore called retinal. When light hits the photopigment, it changes the conformation of the chromophore, triggering a cascade of molecular events that ultimately leads to the generation of an electrical signal.

Invertebrate photoreceptor cells can be found in various locations throughout the body, depending on their function. For example, simple eyespots containing a few photoreceptor cells may be scattered over the surface of the body in some species, while more complex eyes with hundreds or thousands of photoreceptors may be present in other groups. In addition to their role in vision, photoreceptor cells can also serve as sensory organs for regulating circadian rhythms, detecting changes in light intensity, and mediating social behaviors.

Leber Congenital Amaurosis (LCA) is a group of inherited retinal degenerative disorders that affect the development and function of the retina, a light-sensitive tissue at the back of the eye. It is characterized by severe visual impairment or blindness from birth or early infancy.

The condition is caused by mutations in various genes involved in the normal functioning of photoreceptor cells (rods and cones) in the retina, which are responsible for capturing light and transmitting visual signals to the brain. As a result, the photoreceptors fail to develop properly or degenerate over time, leading to vision loss.

Symptoms of LCA may include roving eye movements (nystagmus), lack of fixation, decreased or absent response to light, and abnormal pupillary reflexes. Some individuals with LCA may also have other ocular abnormalities such as keratoconus, cataracts, or glaucoma.

LCA is typically inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. Currently, there is no cure for LCA, but various treatments such as gene therapy and assistive devices may help improve visual function and quality of life for affected individuals.

The pigment epithelium of the eye, also known as the retinal pigment epithelium (RPE), is a layer of cells located between the photoreceptor cells of the retina and the choroid, which is the vascular layer of the eye. The RPE plays a crucial role in maintaining the health and function of the photoreceptors by providing them with nutrients, removing waste products, and helping to regulate the light that enters the eye.

The RPE cells contain pigment granules that absorb excess light, preventing it from scattering within the eye and improving visual acuity. They also help to create a barrier between the retina and the choroid, which is important for maintaining the proper functioning of the photoreceptors. Additionally, the RPE plays a role in the regeneration of visual pigments in the photoreceptor cells, allowing us to see in different light conditions.

Damage to the RPE can lead to various eye diseases and conditions, including age-related macular degeneration (AMD), which is a leading cause of vision loss in older adults.

Ophthalmoscopy is a medical examination technique used by healthcare professionals to observe the interior structures of the eye, including the retina, optic disc, and vitreous humor. This procedure typically involves using an ophthalmoscope, a handheld device that consists of a light and magnifying lenses. The healthcare provider looks through the ophthalmoscope and directly observes the internal structures of the eye by illuminating them.

There are several types of ophthalmoscopy, including direct ophthalmoscopy, indirect ophthalmoscopy, and slit-lamp biomicroscopy. Each type has its own advantages and disadvantages, and they may be used in different situations depending on the specific clinical situation and the information needed.

Ophthalmoscopy is an important diagnostic tool for detecting and monitoring a wide range of eye conditions, including diabetic retinopathy, glaucoma, age-related macular degeneration, and other retinal disorders. It can also provide valuable information about the overall health of the individual, as changes in the appearance of the retina or optic nerve may indicate the presence of systemic diseases such as hypertension or diabetes.

I'm sorry for any confusion, but "Rats, Mutant Strains" is not a recognized medical term or concept. It may be a term used in science fiction, gaming, or other non-medical contexts to refer to genetically modified rats with altered characteristics. However, in the field of medical research, scientists do conduct studies using various strains of lab rats, some of which have been selectively bred or genetically modified to exhibit specific traits, but these are not referred to as "mutant strains." If you have any questions related to medical definitions or concepts, I'd be happy to help with those!

"Fundus Oculi" is a medical term that refers to the back part of the interior of the eye, including the optic disc, macula, fovea, retinal vasculature, and peripheral retina. It is the area where light is focused and then transmitted to the brain via the optic nerve, forming visual images. Examinations of the fundus oculi are crucial for detecting various eye conditions such as diabetic retinopathy, macular degeneration, glaucoma, and other retinal diseases. The examination is typically performed using an ophthalmoscope or a specialized camera called a retinal camera.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Intervertebral disc degeneration is a physiological and biochemical process that occurs in the spinal discs, which are located between each vertebra in the spine. These discs act as shock absorbers and allow for movement and flexibility of the spine.

The degenerative process involves changes in the structure and composition of the disc, including loss of water content, decreased production of proteoglycans (which help to maintain the disc's elasticity), and disorganization of the collagen fibers that make up the disc's outer layer (annulus fibrosus). These changes can lead to a decrease in the disc's height and mobility, as well as the development of tears or cracks in the annulus fibrosus.

In advanced stages of degeneration, the disc may herniate or bulge outward, causing pressure on nearby nerves and potentially leading to pain, numbness, tingling, or weakness in the affected area. It's worth noting that while intervertebral disc degeneration is a normal part of aging, certain factors such as injury, smoking, obesity, and repetitive stress can accelerate the process.

Rhodopsin, also known as visual purple, is a light-sensitive protein found in the rods of the eye's retina. It is a type of opsin, a class of proteins that are activated by light and play a crucial role in vision. Rhodopsin is composed of two parts: an apoprotein called opsin and a chromophore called 11-cis-retinal. When light hits the retina, it changes the shape of the 11-cis-retinal, which in turn activates the rhodopsin protein. This activation triggers a series of chemical reactions that ultimately lead to the transmission of a visual signal to the brain. Rhodopsin is highly sensitive to light and allows for vision in low-light conditions.

The retinal photoreceptor cells, namely rods and cones, are specialized neurons in the retina responsible for converting light into electrical signals that can be processed by the brain. The outer segment of a retinal photoreceptor cell is the portion of the cell where phototransduction primarily occurs. It contains stacks of disc-like structures filled with the visual pigment rhodopsin, which absorbs light and initiates the conversion process.

The outer segment is continuously renewed through a process called shedding and phagocytosis, in which the oldest discs at the base of the outer segment are shed, engulfed by the adjacent retinal pigment epithelium (RPE) cells, and degraded. This turnover helps maintain the sensitivity and functionality of the photoreceptor cells.

In summary, the retinal photoreceptor cell outer segment is a highly specialized compartment where light absorption and initial signal transduction occur in rods and cones, supported by continuous renewal through shedding and phagocytosis.

C57BL/6 (C57 Black 6) is an inbred strain of laboratory mouse that is widely used in biomedical research. The term "inbred" refers to a strain of animals where matings have been carried out between siblings or other closely related individuals for many generations, resulting in a population that is highly homozygous at most genetic loci.

The C57BL/6 strain was established in 1920 by crossing a female mouse from the dilute brown (DBA) strain with a male mouse from the black strain. The resulting offspring were then interbred for many generations to create the inbred C57BL/6 strain.

C57BL/6 mice are known for their robust health, longevity, and ease of handling, making them a popular choice for researchers. They have been used in a wide range of biomedical research areas, including studies of cancer, immunology, neuroscience, cardiovascular disease, and metabolism.

One of the most notable features of the C57BL/6 strain is its sensitivity to certain genetic modifications, such as the introduction of mutations that lead to obesity or impaired glucose tolerance. This has made it a valuable tool for studying the genetic basis of complex diseases and traits.

Overall, the C57BL/6 inbred mouse strain is an important model organism in biomedical research, providing a valuable resource for understanding the genetic and molecular mechanisms underlying human health and disease.

The Fluorescent Antibody Technique (FAT), Indirect is a type of immunofluorescence assay used to detect the presence of specific antigens in a sample. In this method, the sample is first incubated with a primary antibody that binds to the target antigen. After washing to remove unbound primary antibodies, a secondary fluorescently labeled antibody is added, which recognizes and binds to the primary antibody. This indirect labeling approach allows for amplification of the signal, making it more sensitive than direct methods. The sample is then examined under a fluorescence microscope to visualize the location and amount of antigen based on the emitted light from the fluorescent secondary antibody. It's commonly used in diagnostic laboratories for detection of various bacteria, viruses, and other antigens in clinical specimens.

Genetically modified animals (GMAs) are those whose genetic makeup has been altered using biotechnological techniques. This is typically done by introducing one or more genes from another species into the animal's genome, resulting in a new trait or characteristic that does not naturally occur in that species. The introduced gene is often referred to as a transgene.

The process of creating GMAs involves several steps:

1. Isolation: The desired gene is isolated from the DNA of another organism.
2. Transfer: The isolated gene is transferred into the target animal's cells, usually using a vector such as a virus or bacterium.
3. Integration: The transgene integrates into the animal's chromosome, becoming a permanent part of its genetic makeup.
4. Selection: The modified cells are allowed to multiply, and those that contain the transgene are selected for further growth and development.
5. Breeding: The genetically modified individuals are bred to produce offspring that carry the desired trait.

GMAs have various applications in research, agriculture, and medicine. In research, they can serve as models for studying human diseases or testing new therapies. In agriculture, GMAs can be developed to exhibit enhanced growth rates, improved disease resistance, or increased nutritional value. In medicine, GMAs may be used to produce pharmaceuticals or other therapeutic agents within their bodies.

Examples of genetically modified animals include mice with added genes for specific proteins that make them useful models for studying human diseases, goats that produce a human protein in their milk to treat hemophilia, and pigs with enhanced resistance to certain viruses that could potentially be used as organ donors for humans.

It is important to note that the use of genetically modified animals raises ethical concerns related to animal welfare, environmental impact, and potential risks to human health. These issues must be carefully considered and addressed when developing and implementing GMA technologies.

Bardet-Biedl Syndrome (BBD) is a rare genetic disorder that affects multiple organs and systems in the body. It is characterized by a combination of symptoms including:

1. Obesity: Excessive weight gain, especially around the trunk and face, is a common feature of BBS.
2. Polydactyly: Extra fingers or toes are present at birth in about 70% of individuals with BBS.
3. Retinal degeneration: Progressive loss of vision due to retinal dystrophy is a hallmark of the syndrome.
4. Renal abnormalities: Structural and functional kidney problems, such as cysts, nephronophthisis, and chronic kidney disease, are common in BBS patients.
5. Learning difficulties: Intellectual disability or developmental delay is often present in individuals with BBS.
6. Hypogonadism: Abnormalities of the reproductive system, such as small genitals, delayed puberty, and infertility, are common in both males and females with BBS.
7. Other features: Additional symptoms may include speech and language delay, behavioral problems, diabetes mellitus, heart defects, and hearing loss.

Bardet-Biedl Syndrome is inherited as an autosomal recessive trait, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the syndrome. The disorder affects both males and females equally and has a prevalence of about 1 in 100,000-160,000 individuals worldwide.

In situ nick-end labeling (ISEL, also known as TUNEL) is a technique used in pathology and molecular biology to detect DNA fragmentation, which is a characteristic of apoptotic cells (cells undergoing programmed cell death). The method involves labeling the 3'-hydroxyl termini of double or single stranded DNA breaks in situ (within tissue sections or individual cells) using modified nucleotides that are coupled to a detectable marker, such as a fluorophore or an enzyme. This technique allows for the direct visualization and quantification of apoptotic cells within complex tissues or cell populations.

Retinal diseases refer to a group of conditions that affect the retina, which is the light-sensitive tissue located at the back of the eye. The retina is responsible for converting light into electrical signals that are sent to the brain and interpreted as visual images. Retinal diseases can cause vision loss or even blindness, depending on their severity and location in the retina.

Some common retinal diseases include:

1. Age-related macular degeneration (AMD): A progressive disease that affects the central part of the retina called the macula, causing blurred or distorted vision.
2. Diabetic retinopathy: A complication of diabetes that can damage the blood vessels in the retina, leading to vision loss.
3. Retinal detachment: A serious condition where the retina becomes separated from its underlying tissue, requiring immediate medical attention.
4. Macular edema: Swelling or thickening of the macula due to fluid accumulation, which can cause blurred vision.
5. Retinitis pigmentosa: A group of inherited eye disorders that affect the retina's ability to respond to light, causing progressive vision loss.
6. Macular hole: A small break in the macula that can cause distorted or blurry vision.
7. Retinal vein occlusion: Blockage of the retinal veins that can lead to bleeding, swelling, and potential vision loss.

Treatment for retinal diseases varies depending on the specific condition and its severity. Some treatments include medication, laser therapy, surgery, or a combination of these options. Regular eye exams are essential for early detection and treatment of retinal diseases.

Ocular vision refers to the ability to process and interpret visual information that is received by the eyes. This includes the ability to see clearly and make sense of the shapes, colors, and movements of objects in the environment. The ocular system, which includes the eye and related structures such as the optic nerve and visual cortex of the brain, works together to enable vision.

There are several components of ocular vision, including:

* Visual acuity: the clarity or sharpness of vision
* Field of vision: the extent of the visual world that is visible at any given moment
* Color vision: the ability to distinguish different colors
* Depth perception: the ability to judge the distance of objects in three-dimensional space
* Contrast sensitivity: the ability to distinguish an object from its background based on differences in contrast

Disorders of ocular vision can include refractive errors such as nearsightedness or farsightedness, as well as more serious conditions such as cataracts, glaucoma, and macular degeneration. These conditions can affect one or more aspects of ocular vision and may require medical treatment to prevent further vision loss.

Blindness is a condition of complete or near-complete vision loss. It can be caused by various factors such as eye diseases, injuries, or birth defects. Total blindness means that a person cannot see anything at all, while near-complete blindness refers to having only light perception or the ability to perceive the direction of light, but not able to discern shapes or forms. Legal blindness is a term used to define a certain level of visual impairment that qualifies an individual for government assistance and benefits; it usually means best corrected visual acuity of 20/200 or worse in the better eye, or a visual field no greater than 20 degrees in diameter.

A rod cell outer segment is a specialized structure in the retina of the eye that is responsible for photoreception, or the conversion of light into electrical signals. Rod cells are one of the two types of photoreceptor cells in the retina, with the other type being cone cells. Rod cells are more sensitive to light than cone cells and are responsible for low-light vision and peripheral vision.

The outer segment of a rod cell is a long, thin structure that contains stacks of discs filled with the visual pigment rhodopsin. When light hits the rhodopsin molecules in the discs, it causes a chemical reaction that leads to the activation of a signaling pathway within the rod cell. This ultimately results in the generation of an electrical signal that is transmitted to the brain via the optic nerve.

The outer segment of a rod cell is constantly being regenerated and broken down through a process called shedding and renewal. The tips of the outer segments are shed and phagocytosed by cells called retinal pigment epithelial (RPE) cells, which help to maintain the health and function of the rod cells.

Usher Syndromes are a group of genetic disorders that are characterized by hearing loss and visual impairment due to retinitis pigmentosa. They are the most common cause of deafblindness in developed countries. There are three types of Usher Syndromes (Type 1, Type 2, and Type 3) which differ in the age of onset, severity, and progression of hearing loss and vision loss.

Type 1 Usher Syndrome is the most severe form, with profound deafness present at birth or within the first year of life, and retinitis pigmentosa leading to significant vision loss by the teenage years. Type 2 Usher Syndrome is characterized by moderate to severe hearing loss beginning in childhood and vision loss due to retinitis pigmentosa starting in adolescence or early adulthood. Type 3 Usher Syndrome has progressive hearing loss that begins in adolescence and vision loss due to retinitis pigmentosa starting in the third decade of life.

The diagnosis of Usher Syndromes is based on a combination of clinical examination, audiological evaluation, and genetic testing. There is currently no cure for Usher Syndromes, but various assistive devices and therapies can help manage the symptoms and improve quality of life.

Retinal dysplasia is a developmental abnormality of the retina, which is the light-sensitive tissue located at the back of the eye. This condition is characterized by the presence of folds or rosettes (round clusters) in the retinal structure, resulting from improper or disorganized growth of the retinal cells during fetal development.

Retinal dysplasia can be classified into two types:

1. Focal or localized retinal dysplasia: This type is limited to a small area of the retina and usually does not significantly affect vision. It may present as mild folds or rosettes in the retinal structure.
2. Generalized or severe retinal dysplasia: This type involves widespread disorganization of the retinal layers, leading to more significant visual impairment. In extreme cases, it can result in complete detachment of the retina from the underlying tissue, causing blindness.

Retinal dysplasia can be an isolated finding or associated with various genetic disorders, infections, or environmental factors during pregnancy. Depending on the severity and underlying cause, management may include monitoring for visual development, corrective lenses, or treatment of associated conditions.

Arrestin is a type of protein that plays a crucial role in regulating the signaling of G protein-coupled receptors (GPCRs) in cells. These receptors are involved in various cellular responses to hormones, neurotransmitters, and other signaling molecules.

When a signaling molecule binds to a GPCR, it activates the receptor and triggers a cascade of intracellular events, including the activation of G proteins. Arrestin binds to the activated GPCR and prevents further interaction with G proteins, effectively turning off the signal.

There are two main types of arrestins: visual arrestin (or rod arrestin) and non-visual arrestins (which include β-arrestin1 and β-arrestin2). Visual arrestin is primarily found in the retina and plays a role in regulating the light-sensitive proteins rhodopsin and cone opsin. Non-visual arrestins, on the other hand, are expressed throughout the body and regulate various GPCRs involved in diverse physiological processes such as cell growth, differentiation, and migration.

By modulating GPCR signaling, arrestins help maintain proper cellular function and prevent overactivation of signaling pathways that could lead to disease. Dysregulation of arrestin function has been implicated in various pathologies, including cancer, cardiovascular diseases, and neurological disorders.

Transgenic rats are genetically modified rats that have incorporated foreign DNA (transgene) into their own genome. This is typically done through the use of recombinant DNA techniques in the laboratory. The transgene can come from any species, including other mammals, plants, or even bacteria. Once the transgene is introduced into the rat's embryonic cells, it becomes a permanent part of the rat's genetic makeup and is passed on to its offspring.

Transgenic rats are used in biomedical research as models for studying human diseases, developing new therapies, and testing the safety and efficacy of drugs. They offer several advantages over traditional laboratory rats, including the ability to manipulate specific genes, study gene function and regulation, and investigate the underlying mechanisms of disease.

Some common applications of transgenic rats in research include:

1. Modeling human diseases: Transgenic rats can be engineered to develop symptoms and characteristics of human diseases, such as cancer, diabetes, Alzheimer's, and Parkinson's. This allows researchers to study the disease progression, test new treatments, and evaluate their effectiveness.
2. Gene function and regulation: By introducing specific genes into rats, scientists can investigate their role in various biological processes, such as development, aging, and metabolism. They can also study how genes are regulated and how they interact with each other.
3. Drug development and testing: Transgenic rats can be used to test the safety and efficacy of new drugs before they are tested in humans. By studying the effects of drugs on transgenic rats, researchers can gain insights into their potential benefits and risks.
4. Toxicology studies: Transgenic rats can be used to study the toxicity of chemicals, pollutants, and other substances. This helps ensure that new products and treatments are safe for human use.

In summary, transgenic rats are genetically modified rats that have incorporated foreign DNA into their own genome. They are widely used in biomedical research to model human diseases, study gene function and regulation, develop new therapies, and test the safety and efficacy of drugs.

Fluorescein angiography is a medical diagnostic procedure used in ophthalmology to examine the blood flow in the retina and choroid, which are the inner layers of the eye. This test involves injecting a fluorescent dye, Fluorescein, into a patient's arm vein. As the dye reaches the blood vessels in the eye, a specialized camera takes rapid sequences of photographs to capture the dye's circulation through the retina and choroid.

The images produced by fluorescein angiography can help doctors identify any damage to the blood vessels, leakage, or abnormal growth of new blood vessels. This information is crucial in diagnosing and managing various eye conditions such as age-related macular degeneration, diabetic retinopathy, retinal vein occlusions, and inflammatory eye diseases.

It's important to note that while fluorescein angiography is a valuable diagnostic tool, it does carry some risks, including temporary side effects like nausea, vomiting, or allergic reactions to the dye. In rare cases, severe adverse reactions can occur, so patients should discuss these potential risks with their healthcare provider before undergoing the procedure.

Lipofuscin is a type of pigment that accumulates in the lysosomes (membrane-bound organelles found inside cells) of various tissues, particularly in nerve cells and heart muscle cells. It consists of cross-linked proteins and lipids that are resistant to degradation by enzymes. The accumulation of lipofuscin is a normal part of aging but can also be associated with certain diseases such as neurodegenerative disorders.

It's often referred to as "age pigment" because it tends to increase in amount with age, and its presence in tissues has been linked to oxidative stress and cellular damage caused by free radicals. Lipofuscin is autofluorescent, meaning that it emits light when excited by certain wavelengths of light, which can be useful for its detection and quantification in research and diagnostic settings.

Wet macular degeneration, also known as neovascular or exudative age-related macular degeneration (AMD), is a medical condition that affects the central part of the retina called the macula. It's characterized by the growth of new blood vessels (neovascularization) from the choroid layer behind the retina into the macula, which is not typical in healthy eyes. These abnormal blood vessels are fragile and prone to leakage, leading to the accumulation of fluid or blood in the macula, causing distortion or loss of central vision.

The wet form of AMD can progress rapidly and often leads to more severe visual loss compared to the dry form. It's essential to diagnose and treat wet AMD promptly to preserve as much vision as possible. Common treatments include anti-vascular endothelial growth factor (VEGF) injections, photodynamic therapy, or thermal laser treatment, depending on the specific case and individual patient factors.

Frontotemporal lobar degeneration (FTLD) is a group of disorders characterized by the progressive degeneration of the frontal and temporal lobes of the brain. These areas of the brain are involved in decision-making, behavior, emotion, and language. FTLD can be divided into several subtypes based on the specific clinical features and the underlying protein abnormalities.

The three main subtypes of FTLD are:

1. Behavioral variant frontotemporal dementia (bvFTD): This subtype is characterized by changes in personality, behavior, and judgment. People with bvFTD may lose their social inhibitions, become impulsive, or develop compulsive behaviors. They may also have difficulty with emotional processing and empathy.
2. Primary progressive aphasia (PPA): This subtype is characterized by the gradual deterioration of language skills. People with PPA may have difficulty speaking, understanding spoken or written language, or both. There are three subtypes of PPA: nonfluent/agrammatic variant, semantic variant, and logopenic variant.
3. Motor neuron disease (MND) with FTLD: This subtype is characterized by the degeneration of motor neurons, which are the nerve cells responsible for controlling voluntary muscle movements. People with MND with FTLD may develop symptoms of amyotrophic lateral sclerosis (ALS), such as muscle weakness, stiffness, and twitching, as well as cognitive and behavioral changes associated with FTLD.

The underlying protein abnormalities in FTLD include:

1. Tau protein: In some forms of FTLD, the tau protein accumulates and forms clumps called tangles inside nerve cells. This is also seen in Alzheimer's disease.
2. TDP-43 protein: In other forms of FTLD, the TDP-43 protein accumulates and forms clumps inside nerve cells.
3. Fused in sarcoma (FUS) protein: In a small number of cases, the FUS protein accumulates and forms clumps inside nerve cells.

FTLD is typically a progressive disorder, meaning that symptoms worsen over time. There is currently no cure for FTLD, but there are treatments available to help manage symptoms and improve quality of life.

A "knockout" mouse is a genetically engineered mouse in which one or more genes have been deleted or "knocked out" using molecular biology techniques. This allows researchers to study the function of specific genes and their role in various biological processes, as well as potential associations with human diseases. The mice are generated by introducing targeted DNA modifications into embryonic stem cells, which are then used to create a live animal. Knockout mice have been widely used in biomedical research to investigate gene function, disease mechanisms, and potential therapeutic targets.

Transgenic mice are genetically modified rodents that have incorporated foreign DNA (exogenous DNA) into their own genome. This is typically done through the use of recombinant DNA technology, where a specific gene or genetic sequence of interest is isolated and then introduced into the mouse embryo. The resulting transgenic mice can then express the protein encoded by the foreign gene, allowing researchers to study its function in a living organism.

The process of creating transgenic mice usually involves microinjecting the exogenous DNA into the pronucleus of a fertilized egg, which is then implanted into a surrogate mother. The offspring that result from this procedure are screened for the presence of the foreign DNA, and those that carry the desired genetic modification are used to establish a transgenic mouse line.

Transgenic mice have been widely used in biomedical research to model human diseases, study gene function, and test new therapies. They provide a valuable tool for understanding complex biological processes and developing new treatments for a variety of medical conditions.

Visual acuity is a measure of the sharpness or clarity of vision. It is usually tested by reading an eye chart from a specific distance, such as 20 feet (6 meters). The standard eye chart used for this purpose is called the Snellen chart, which contains rows of letters that decrease in size as you read down the chart.

Visual acuity is typically expressed as a fraction, with the numerator representing the testing distance and the denominator indicating the smallest line of type that can be read clearly. For example, if a person can read the line on the eye chart that corresponds to a visual acuity of 20/20, it means they have normal vision at 20 feet. If their visual acuity is 20/40, it means they must be as close as 20 feet to see what someone with normal vision can see at 40 feet.

It's important to note that visual acuity is just one aspect of overall vision and does not necessarily reflect other important factors such as peripheral vision, depth perception, color vision, or contrast sensitivity.

Retrograde degeneration is a medical term that refers to the process of degeneration or damage in neurons (nerve cells) that occurs backward from the site of injury or disease along the axon, which is the part of the neuron that transmits electrical signals to other neurons. This can lead to functional loss and may eventually result in the death of the neuron. Retrograde degeneration is often seen in neurodegenerative disorders such as Amyotrophic Lateral Sclerosis (ALS) and Alzheimer's disease, as well as in spinal cord injuries.

Retinal Ganglion Cells (RGCs) are a type of neuron located in the innermost layer of the retina, the light-sensitive tissue at the back of the eye. These cells receive visual information from photoreceptors (rods and cones) via intermediate cells called bipolar cells. RGCs then send this visual information through their long axons to form the optic nerve, which transmits the signals to the brain for processing and interpretation as vision.

There are several types of RGCs, each with distinct morphological and functional characteristics. Some RGCs are specialized in detecting specific features of the visual scene, such as motion, contrast, color, or brightness. The diversity of RGCs allows for a rich and complex representation of the visual world in the brain.

Damage to RGCs can lead to various visual impairments, including loss of vision, reduced visual acuity, and altered visual fields. Conditions associated with RGC damage or degeneration include glaucoma, optic neuritis, ischemic optic neuropathy, and some inherited retinal diseases.

Nerve tissue proteins are specialized proteins found in the nervous system that provide structural and functional support to nerve cells, also known as neurons. These proteins include:

1. Neurofilaments: These are type IV intermediate filaments that provide structural support to neurons and help maintain their shape and size. They are composed of three subunits - NFL (light), NFM (medium), and NFH (heavy).

2. Neuronal Cytoskeletal Proteins: These include tubulins, actins, and spectrins that provide structural support to the neuronal cytoskeleton and help maintain its integrity.

3. Neurotransmitter Receptors: These are specialized proteins located on the postsynaptic membrane of neurons that bind neurotransmitters released by presynaptic neurons, triggering a response in the target cell.

4. Ion Channels: These are transmembrane proteins that regulate the flow of ions across the neuronal membrane and play a crucial role in generating and transmitting electrical signals in neurons.

5. Signaling Proteins: These include enzymes, receptors, and adaptor proteins that mediate intracellular signaling pathways involved in neuronal development, differentiation, survival, and death.

6. Adhesion Proteins: These are cell surface proteins that mediate cell-cell and cell-matrix interactions, playing a crucial role in the formation and maintenance of neural circuits.

7. Extracellular Matrix Proteins: These include proteoglycans, laminins, and collagens that provide structural support to nerve tissue and regulate neuronal migration, differentiation, and survival.

Intermediate filament proteins (IFPs) are a type of cytoskeletal protein that form the intermediate filaments (IFs), which are one of the three major components of the cytoskeleton in eukaryotic cells, along with microtubules and microfilaments. These proteins have a unique structure, characterized by an alpha-helical rod domain flanked by non-helical head and tail domains.

Intermediate filament proteins are classified into six major types based on their amino acid sequence: Type I (acidic) and Type II (basic) keratins, Type III (desmin, vimentin, glial fibrillary acidic protein, and peripherin), Type IV (neurofilaments), Type V (lamins), and Type VI (nestin). Each type of IFP has a distinct pattern of expression in different tissues and cell types.

Intermediate filament proteins play important roles in maintaining the structural integrity and mechanical strength of cells, providing resilience to mechanical stress, and regulating various cellular processes such as cell division, migration, and signal transduction. Mutations in IFP genes have been associated with several human diseases, including cancer, neurodegenerative disorders, and genetic skin fragility disorders.

Retinal neurons are the specialized nerve cells located in the retina, which is the light-sensitive tissue that lines the inner surface of the eye. The retina converts incoming light into electrical signals, which are then transmitted to the brain and interpreted as visual images. There are several types of retinal neurons, including:

1. Photoreceptors (rods and cones): These are the primary sensory cells that convert light into electrical signals. Rods are responsible for low-light vision, while cones are responsible for color vision and fine detail.
2. Bipolar cells: These neurons receive input from photoreceptors and transmit signals to ganglion cells. They can be either ON or OFF bipolar cells, depending on whether they respond to an increase or decrease in light intensity.
3. Ganglion cells: These are the output neurons of the retina that send visual information to the brain via the optic nerve. There are several types of ganglion cells, including parasol, midget, and small bistratified cells, which have different functions in processing visual information.
4. Horizontal cells: These interneurons connect photoreceptors to each other and help regulate the sensitivity of the retina to light.
5. Amacrine cells: These interneurons connect bipolar cells to ganglion cells and play a role in modulating the signals that are transmitted to the brain.

Overall, retinal neurons work together to process visual information and transmit it to the brain for further analysis and interpretation.

Transducin is a G protein found in the rod cells of the retina and plays a crucial role in the visual signal transduction pathway. It is responsible for converting the light-induced isomerization of rhodopsin into a biochemical signal, which ultimately leads to the activation of downstream effectors and the generation of a neural response.

Transducin has three subunits: alpha (Tα), beta (Tβ), and gamma (Tγ). When light activates rhodopsin, it interacts with the Tα subunit, causing it to exchange GDP for GTP and dissociate from the Tβγ complex. The activated Tα then interacts with a downstream effector called phosphodiesterase (PDE), which leads to the hydrolysis of cGMP and the closure of cGMP-gated ion channels in the plasma membrane. This results in the hyperpolarization of the rod cell, which is the initial step in the visual signal transduction pathway.

Overall, transducin is a key player in the conversion of light energy into neural signals, allowing us to see and perceive our visual world.

Retinaldehyde, also known as retinal, is a form of vitamin A that is essential for vision. It is the aldehyde form of retinol (vitamin A alcohol) and is involved in the visual cycle, where it plays a crucial role in the process of converting light into electrical signals that are sent to the brain.

When light hits the retina, it activates a protein called rhodopsin, which contains retinaldehyde as one of its components. This activation causes a chemical change in retinaldehyde, leading to the generation of an electrical signal that is transmitted to the brain via the optic nerve.

Retinaldehyde is also involved in other physiological processes, including the regulation of gene expression and cell growth and differentiation. It can be synthesized in the body from beta-carotene, a pigment found in fruits and vegetables, or obtained directly from animal sources such as liver, fish liver oil, and dairy products.

Optical coherence tomography (OCT) is a non-invasive imaging technique that uses low-coherence light to capture high-resolution cross-sectional images of biological tissues, particularly the retina and other ocular structures. OCT works by measuring the echo time delay of light scattered back from different depths within the tissue, creating a detailed map of the tissue's structure. This technique is widely used in ophthalmology to diagnose and monitor various eye conditions such as macular degeneration, diabetic retinopathy, and glaucoma.

Recoverin is a protein found in the retina of the eye that plays a role in protecting photoreceptor cells from light-induced damage. It is a member of the neuronal calcium sensor family and functions as a calmodulin-binding protein, which means it can bind to calcium ions and regulate various cellular processes.

Recoverin is particularly important for the regulation of visual transduction, the process by which light is converted into electrical signals in the eye. When exposed to light, photoreceptor cells release calcium ions, which then bind to recoverin and cause it to change shape. This shape change allows recoverin to inhibit a key enzyme involved in the visual transduction cascade, helping to prevent excessive signaling and protect the photoreceptor cells from damage.

Mutations in the gene that encodes recoverin have been associated with certain inherited eye diseases, such as congenital stationary night blindness and retinitis pigmentosa. These mutations can disrupt the normal function of recoverin and lead to progressive vision loss.

Recessive genes refer to the alleles (versions of a gene) that will only be expressed when an individual has two copies of that particular allele, one inherited from each parent. If an individual inherits one recessive allele and one dominant allele for a particular gene, the dominant allele will be expressed and the recessive allele will have no effect on the individual's phenotype (observable traits).

Recessive genes can still play a role in determining an individual's genetic makeup and can be passed down through generations even if they are not expressed. If two carriers of a recessive gene have children, there is a 25% chance that their offspring will inherit two copies of the recessive allele and exhibit the associated recessive trait.

Examples of genetic disorders caused by recessive genes include cystic fibrosis, sickle cell anemia, and albinism.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

Retinal bipolar cells are a type of neuron located in the inner nuclear layer of the retina, an light-sensitive tissue that lines the interior of the eye. These cells play a crucial role in the visual system by transmitting visual signals from photoreceptors (rods and cones) to ganglion cells, which then relay this information to the brain via the optic nerve.

Bipolar cells have two processes or "arms" that connect to either photoreceptors or ganglion cells: one process receives input from photoreceptors and the other transmits output to ganglion cells. They are called "bipolar" because of this dual connection. These cells can be classified into different types based on their morphology, neurotransmitter usage, and synaptic connections with photoreceptors and ganglion cells.

There are two primary types of retinal bipolar cells: rod bipolar cells and cone bipolar cells. Rod bipolar cells mainly transmit signals from rod photoreceptors, which are responsible for low-light vision, while cone bipolar cells connect to cone photoreceptors that handle color vision and high visual acuity in bright light conditions.

Retinal bipolar cells help process and encode visual information based on contrast, spatial patterns, and temporal changes in light intensity. Their output contributes significantly to the formation of visual perceptions such as brightness, contrast, and motion detection. Dysfunction or damage to retinal bipolar cells can lead to various visual impairments and diseases, including some forms of vision loss.

The choroid is a layer of the eye that contains blood vessels that supply oxygen and nutrients to the outer layers of the retina. It lies between the sclera (the white, protective coat of the eye) and the retina (the light-sensitive tissue at the back of the eye). The choroid is essential for maintaining the health and function of the retina, particularly the photoreceptor cells that detect light and transmit visual signals to the brain. Damage to the choroid can lead to vision loss or impairment.

Apoptosis is a programmed and controlled cell death process that occurs in multicellular organisms. It is a natural process that helps maintain tissue homeostasis by eliminating damaged, infected, or unwanted cells. During apoptosis, the cell undergoes a series of morphological changes, including cell shrinkage, chromatin condensation, and fragmentation into membrane-bound vesicles called apoptotic bodies. These bodies are then recognized and engulfed by neighboring cells or phagocytic cells, preventing an inflammatory response. Apoptosis is regulated by a complex network of intracellular signaling pathways that involve proteins such as caspases, Bcl-2 family members, and inhibitors of apoptosis (IAPs).

Dominant genes refer to the alleles (versions of a gene) that are fully expressed in an individual's phenotype, even if only one copy of the gene is present. In dominant inheritance patterns, an individual needs only to receive one dominant allele from either parent to express the associated trait. This is in contrast to recessive genes, where both copies of the gene must be the recessive allele for the trait to be expressed. Dominant genes are represented by uppercase letters (e.g., 'A') and recessive genes by lowercase letters (e.g., 'a'). If an individual inherits one dominant allele (A) from either parent, they will express the dominant trait (A).

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

Immunohistochemistry (IHC) is a technique used in pathology and laboratory medicine to identify specific proteins or antigens in tissue sections. It combines the principles of immunology and histology to detect the presence and location of these target molecules within cells and tissues. This technique utilizes antibodies that are specific to the protein or antigen of interest, which are then tagged with a detection system such as a chromogen or fluorophore. The stained tissue sections can be examined under a microscope, allowing for the visualization and analysis of the distribution and expression patterns of the target molecule in the context of the tissue architecture. Immunohistochemistry is widely used in diagnostic pathology to help identify various diseases, including cancer, infectious diseases, and immune-mediated disorders.

3',5'-Cyclic guanosine monophosphate (cGMP) phosphodiesterases are a group of enzymes that play a role in regulating the levels of cGMP, an important intracellular signaling molecule involved in various biological processes. These enzymes catalyze the hydrolysis of cGMP to 5'-GMP, thereby terminating cGMP-mediated signals within cells.

There are several isoforms of cGMP phosphodiesterases, which differ in their regulatory properties, substrate specificity, and cellular distribution. These enzymes can be activated or inhibited by various factors, including drugs, hormones, and neurotransmitters, and play a crucial role in modulating the activity of cGMP-dependent signaling pathways in different tissues and organs.

Dysregulation of cGMP phosphodiesterase activity has been implicated in various diseases, including cardiovascular disorders, pulmonary hypertension, neurodegenerative diseases, and cancer. Therefore, these enzymes are considered important targets for the development of novel therapeutic strategies for the treatment of these conditions.

A dependovirus, also known as a dependent adenovirus or satellite adenovirus, is a type of virus that requires the presence of another virus, specifically an adenovirus, to replicate. Dependoviruses are small, non-enveloped viruses with a double-stranded DNA genome. They cannot complete their replication cycle without the help of an adenovirus, which provides necessary functions for the dependovirus to replicate.

Dependoviruses are clinically significant because they can cause disease in humans, particularly in individuals with weakened immune systems. In some cases, dependoviruses may also affect the severity and outcome of adenovirus infections. However, it is important to note that not all adenovirus infections are associated with dependovirus co-infections.

Ciliary Neurotrophic Factor (CNTF) is a protein that belongs to the neurotrophin family and plays a crucial role in the survival, development, and maintenance of certain neurons in the nervous system. It was initially identified as a factor that supports the survival of ciliary ganglion neurons, hence its name.

CNTF has a broad range of effects on various types of neurons, including motor neurons, sensory neurons, and autonomic neurons. It promotes the differentiation and survival of these cells during embryonic development and helps maintain their function in adulthood. CNTF also exhibits neuroprotective properties, protecting neurons from various forms of injury and degeneration.

In addition to its role in the nervous system, CNTF has been implicated in the regulation of immune responses and energy metabolism. It is primarily produced by glial cells, such as astrocytes and microglia, in response to inflammation or injury. The receptors for CNTF are found on various cell types, including neurons, muscle cells, and immune cells.

Overall, CNTF is an essential protein that plays a critical role in the development, maintenance, and protection of the nervous system. Its functions have attracted significant interest in the context of neurodegenerative diseases and potential therapeutic applications.

Cell death is the process by which cells cease to function and eventually die. There are several ways that cells can die, but the two most well-known and well-studied forms of cell death are apoptosis and necrosis.

Apoptosis is a programmed form of cell death that occurs as a normal and necessary process in the development and maintenance of healthy tissues. During apoptosis, the cell's DNA is broken down into small fragments, the cell shrinks, and the membrane around the cell becomes fragmented, allowing the cell to be easily removed by phagocytic cells without causing an inflammatory response.

Necrosis, on the other hand, is a form of cell death that occurs as a result of acute tissue injury or overwhelming stress. During necrosis, the cell's membrane becomes damaged and the contents of the cell are released into the surrounding tissue, causing an inflammatory response.

There are also other forms of cell death, such as autophagy, which is a process by which cells break down their own organelles and proteins to recycle nutrients and maintain energy homeostasis, and pyroptosis, which is a form of programmed cell death that occurs in response to infection and involves the activation of inflammatory caspases.

Cell death is an important process in many physiological and pathological processes, including development, tissue homeostasis, and disease. Dysregulation of cell death can contribute to the development of various diseases, including cancer, neurodegenerative disorders, and autoimmune diseases.

"Cell count" is a medical term that refers to the process of determining the number of cells present in a given volume or sample of fluid or tissue. This can be done through various laboratory methods, such as counting individual cells under a microscope using a specialized grid called a hemocytometer, or using automated cell counters that use light scattering and electrical impedance techniques to count and classify different types of cells.

Cell counts are used in a variety of medical contexts, including hematology (the study of blood and blood-forming tissues), microbiology (the study of microscopic organisms), and pathology (the study of diseases and their causes). For example, a complete blood count (CBC) is a routine laboratory test that includes a white blood cell (WBC) count, red blood cell (RBC) count, hemoglobin level, hematocrit value, and platelet count. Abnormal cell counts can indicate the presence of various medical conditions, such as infections, anemia, or leukemia.

'C3H' is the name of an inbred strain of laboratory mice that was developed at the Jackson Laboratory in Bar Harbor, Maine. The mice are characterized by their uniform genetic background and have been widely used in biomedical research for many decades.

The C3H strain is particularly notable for its susceptibility to certain types of cancer, including mammary tumors and lymphomas. It also has a high incidence of age-related macular degeneration and other eye diseases. The strain is often used in studies of immunology, genetics, and carcinogenesis.

Like all inbred strains, the C3H mice are the result of many generations of brother-sister matings, which leads to a high degree of genetic uniformity within the strain. This makes them useful for studying the effects of specific genes or environmental factors on disease susceptibility and other traits. However, it also means that they may not always be representative of the genetic diversity found in outbred populations, including humans.

An intervertebral disc is a fibrocartilaginous structure found between the vertebrae of the spinal column in humans and other animals. It functions as a shock absorber, distributes mechanical stress during weight-bearing activities, and allows for varying degrees of mobility between adjacent vertebrae.

The disc is composed of two parts: the annulus fibrosus, which forms the tough, outer layer; and the nucleus pulposus, which is a gel-like substance in the center that contains proteoglycans and water. The combination of these components provides the disc with its unique ability to distribute forces and allow for movement.

The intervertebral discs are essential for the normal functioning of the spine, providing stability, flexibility, and protection to the spinal cord and nerves. However, they can also be subject to degeneration and injury, which may result in conditions such as herniated discs or degenerative disc disease.

Western blotting is a laboratory technique used in molecular biology to detect and quantify specific proteins in a mixture of many different proteins. This technique is commonly used to confirm the expression of a protein of interest, determine its size, and investigate its post-translational modifications. The name "Western" blotting distinguishes this technique from Southern blotting (for DNA) and Northern blotting (for RNA).

The Western blotting procedure involves several steps:

1. Protein extraction: The sample containing the proteins of interest is first extracted, often by breaking open cells or tissues and using a buffer to extract the proteins.
2. Separation of proteins by electrophoresis: The extracted proteins are then separated based on their size by loading them onto a polyacrylamide gel and running an electric current through the gel (a process called sodium dodecyl sulfate-polyacrylamide gel electrophoresis or SDS-PAGE). This separates the proteins according to their molecular weight, with smaller proteins migrating faster than larger ones.
3. Transfer of proteins to a membrane: After separation, the proteins are transferred from the gel onto a nitrocellulose or polyvinylidene fluoride (PVDF) membrane using an electric current in a process called blotting. This creates a replica of the protein pattern on the gel but now immobilized on the membrane for further analysis.
4. Blocking: The membrane is then blocked with a blocking agent, such as non-fat dry milk or bovine serum albumin (BSA), to prevent non-specific binding of antibodies in subsequent steps.
5. Primary antibody incubation: A primary antibody that specifically recognizes the protein of interest is added and allowed to bind to its target protein on the membrane. This step may be performed at room temperature or 4°C overnight, depending on the antibody's properties.
6. Washing: The membrane is washed with a buffer to remove unbound primary antibodies.
7. Secondary antibody incubation: A secondary antibody that recognizes the primary antibody (often coupled to an enzyme or fluorophore) is added and allowed to bind to the primary antibody. This step may involve using a horseradish peroxidase (HRP)-conjugated or alkaline phosphatase (AP)-conjugated secondary antibody, depending on the detection method used later.
8. Washing: The membrane is washed again to remove unbound secondary antibodies.
9. Detection: A detection reagent is added to visualize the protein of interest by detecting the signal generated from the enzyme-conjugated or fluorophore-conjugated secondary antibody. This can be done using chemiluminescent, colorimetric, or fluorescent methods.
10. Analysis: The resulting image is analyzed to determine the presence and quantity of the protein of interest in the sample.

Western blotting is a powerful technique for identifying and quantifying specific proteins within complex mixtures. It can be used to study protein expression, post-translational modifications, protein-protein interactions, and more. However, it requires careful optimization and validation to ensure accurate and reproducible results.

Transmission electron microscopy (TEM) is a type of microscopy in which an electron beam is transmitted through a ultra-thin specimen, interacting with it as it passes through. An image is formed from the interaction of the electrons with the specimen; the image is then magnified and visualized on a fluorescent screen or recorded on an electronic detector (or photographic film in older models).

TEM can provide high-resolution, high-magnification images that can reveal the internal structure of specimens including cells, viruses, and even molecules. It is widely used in biological and materials science research to investigate the ultrastructure of cells, tissues and materials. In medicine, TEM is used for diagnostic purposes in fields such as virology and bacteriology.

It's important to note that preparing a sample for TEM is a complex process, requiring specialized techniques to create thin (50-100 nm) specimens. These include cutting ultrathin sections of embedded samples using an ultramicrotome, staining with heavy metal salts, and positive staining or negative staining methods.

G-Protein-Coupled Receptor Kinase 1 (GRK1) is a serine/threonine kinase that specifically phosphorylates and desensitizes G-protein-coupled receptors (GPCRs) upon agonist activation. GRK1 plays a crucial role in the regulation of GPCR signaling, which is involved in various physiological processes, including sensory perception, neurotransmission, and hormonal regulation.

GRK1 is primarily expressed in the retina and testis, where it regulates the activity of rhodopsin and β-adrenergic receptors, respectively. The kinase activity of GRK1 leads to the recruitment of arrestin proteins, which uncouple the receptor from its G protein, thereby terminating the signaling response. Additionally, GRK1-mediated phosphorylation creates binding sites for β-arrestins, leading to receptor internalization and subsequent degradation or recycling.

Mutations in GRK1 have been associated with various diseases, including retinitis pigmentosa, a genetic disorder that causes progressive vision loss. Therefore, understanding the function and regulation of GRK1 is essential for developing therapeutic strategies targeting GPCR-mediated diseases.

'Drosophila proteins' refer to the proteins that are expressed in the fruit fly, Drosophila melanogaster. This organism is a widely used model system in genetics, developmental biology, and molecular biology research. The study of Drosophila proteins has contributed significantly to our understanding of various biological processes, including gene regulation, cell signaling, development, and aging.

Some examples of well-studied Drosophila proteins include:

1. HSP70 (Heat Shock Protein 70): A chaperone protein involved in protein folding and protection from stress conditions.
2. TUBULIN: A structural protein that forms microtubules, important for cell division and intracellular transport.
3. ACTIN: A cytoskeletal protein involved in muscle contraction, cell motility, and maintenance of cell shape.
4. BETA-GALACTOSIDASE (LACZ): A reporter protein often used to monitor gene expression patterns in transgenic flies.
5. ENDOGLIN: A protein involved in the development of blood vessels during embryogenesis.
6. P53: A tumor suppressor protein that plays a crucial role in preventing cancer by regulating cell growth and division.
7. JUN-KINASE (JNK): A signaling protein involved in stress response, apoptosis, and developmental processes.
8. DECAPENTAPLEGIC (DPP): A member of the TGF-β (Transforming Growth Factor Beta) superfamily, playing essential roles in embryonic development and tissue homeostasis.

These proteins are often studied using various techniques such as biochemistry, genetics, molecular biology, and structural biology to understand their functions, interactions, and regulation within the cell.

Choroideremia is a rare inherited eye disorder that causes progressive loss of vision. It primarily affects the choroid, which is the layer of blood vessels that provides oxygen and nutrients to the outer layers of the retina. The disease also damages the retina and the optic nerve over time.

The condition is caused by mutations in the CHM gene, which provides instructions for making a protein called REP-1 that is essential for maintaining the health of the light-sensitive cells in the retina (rods and cones). Without this protein, these cells gradually deteriorate and die, leading to vision loss.

Choroideremia typically affects males more severely than females, and it usually begins in childhood with night blindness (nyctalopia) and decreased visual acuity. Over time, the field of vision becomes narrower (tunnel vision), and eventually, complete blindness can occur. Currently, there is no cure for choroideremia, but research is ongoing to develop potential treatments such as gene therapy.

Reverse Transcriptase Polymerase Chain Reaction (RT-PCR) is a laboratory technique used in molecular biology to amplify and detect specific DNA sequences. This technique is particularly useful for the detection and quantification of RNA viruses, as well as for the analysis of gene expression.

The process involves two main steps: reverse transcription and polymerase chain reaction (PCR). In the first step, reverse transcriptase enzyme is used to convert RNA into complementary DNA (cDNA) by reading the template provided by the RNA molecule. This cDNA then serves as a template for the PCR amplification step.

In the second step, the PCR reaction uses two primers that flank the target DNA sequence and a thermostable polymerase enzyme to repeatedly copy the targeted cDNA sequence. The reaction mixture is heated and cooled in cycles, allowing the primers to anneal to the template, and the polymerase to extend the new strand. This results in exponential amplification of the target DNA sequence, making it possible to detect even small amounts of RNA or cDNA.

RT-PCR is a sensitive and specific technique that has many applications in medical research and diagnostics, including the detection of viruses such as HIV, hepatitis C virus, and SARS-CoV-2 (the virus that causes COVID-19). It can also be used to study gene expression, identify genetic mutations, and diagnose genetic disorders.

An injection is a medical procedure in which a medication, vaccine, or other substance is introduced into the body using a needle and syringe. The substance can be delivered into various parts of the body, including into a vein (intravenous), muscle (intramuscular), under the skin (subcutaneous), or into the spinal canal (intrathecal or spinal).

Injections are commonly used to administer medications that cannot be taken orally, have poor oral bioavailability, need to reach the site of action quickly, or require direct delivery to a specific organ or tissue. They can also be used for diagnostic purposes, such as drawing blood samples (venipuncture) or injecting contrast agents for imaging studies.

Proper technique and sterile conditions are essential when administering injections to prevent infection, pain, and other complications. The choice of injection site depends on the type and volume of the substance being administered, as well as the patient's age, health status, and personal preferences.

A photoreceptor connecting cilium, also known as the connecting cilium or the outer segment initial segment, is a specialized structure found in the eye's photoreceptor cells (rods and cones). It is a thin, non-motile cilium that connects the inner segment of the photoreceptor cell to the outer segment. The outer segment contains the visual pigments that absorb light and initiate the process of vision.

The connecting cilium plays a crucial role in the maintenance and function of the outer segment by providing a passageway for the transport of proteins, lipids, and other molecules from the inner segment to the outer segment. This process is essential for the renewal and turnover of the visual pigments and other components of the outer segment. The connecting cilium also helps maintain the structural integrity of the photoreceptor cells and their sensitivity to light.

Defects in the connecting cilium can lead to various retinal disorders, such as retinitis pigmentosa and Leber congenital amaurosis, which are characterized by progressive vision loss due to the degeneration of the photoreceptor cells.

Retinal vessels refer to the blood vessels that are located in the retina, which is the light-sensitive tissue that lines the inner surface of the eye. The retina contains two types of blood vessels: arteries and veins.

The central retinal artery supplies oxygenated blood to the inner layers of the retina, while the central retinal vein drains deoxygenated blood from the retina. These vessels can be visualized during a routine eye examination using an ophthalmoscope, which allows healthcare professionals to assess their health and any potential abnormalities.

Retinal vessels are essential for maintaining the health and function of the retina, and any damage or changes to these vessels can affect vision and lead to various eye conditions such as diabetic retinopathy, retinal vein occlusion, and hypertensive retinopathy.

Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.

Smith-Lemli-Opitz syndrome (SLOS) is a genetic disorder that affects the development of multiple body systems. It is caused by a deficiency in the enzyme 7-dehydrocholesterol reductase, which is needed for the production of cholesterol in the body.

The symptoms of SLOS can vary widely in severity, but often include developmental delays, intellectual disability, low muscle tone (hypotonia), feeding difficulties, and behavioral problems. Physical abnormalities may also be present, such as cleft palate, heart defects, extra fingers or toes (polydactyly), and genital abnormalities in males.

SLOS is an autosomal recessive disorder, which means that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. It is typically diagnosed through genetic testing and biochemical analysis of blood or body fluids. Treatment for SLOS may include cholesterol supplementation, special education services, and management of associated medical conditions.

The eye is the organ of sight, primarily responsible for detecting and focusing on visual stimuli. It is a complex structure composed of various parts that work together to enable vision. Here are some of the main components of the eye:

1. Cornea: The clear front part of the eye that refracts light entering the eye and protects the eye from harmful particles and microorganisms.
2. Iris: The colored part of the eye that controls the amount of light reaching the retina by adjusting the size of the pupil.
3. Pupil: The opening in the center of the iris that allows light to enter the eye.
4. Lens: A biconvex structure located behind the iris that further refracts light and focuses it onto the retina.
5. Retina: A layer of light-sensitive cells (rods and cones) at the back of the eye that convert light into electrical signals, which are then transmitted to the brain via the optic nerve.
6. Optic Nerve: The nerve that carries visual information from the retina to the brain.
7. Vitreous: A clear, gel-like substance that fills the space between the lens and the retina, providing structural support to the eye.
8. Conjunctiva: A thin, transparent membrane that covers the front of the eye and the inner surface of the eyelids.
9. Extraocular Muscles: Six muscles that control the movement of the eye, allowing for proper alignment and focus.

The eye is a remarkable organ that allows us to perceive and interact with our surroundings. Various medical specialties, such as ophthalmology and optometry, are dedicated to the diagnosis, treatment, and management of various eye conditions and diseases.

Aging is a complex, progressive and inevitable process of bodily changes over time, characterized by the accumulation of cellular damage and degenerative changes that eventually lead to increased vulnerability to disease and death. It involves various biological, genetic, environmental, and lifestyle factors that contribute to the decline in physical and mental functions. The medical field studies aging through the discipline of gerontology, which aims to understand the underlying mechanisms of aging and develop interventions to promote healthy aging and extend the human healthspan.

Light signal transduction is a biological process that refers to the way in which cells convert light signals into chemical or electrical responses. This process typically involves several components, including a light-sensitive receptor (such as a photopigment), a signaling molecule (like a G-protein or calcium ion), and an effector protein that triggers a downstream response.

In the visual system, for example, light enters the eye and activates photoreceptor cells in the retina. These cells contain a light-sensitive pigment called rhodopsin, which undergoes a chemical change when struck by a photon of light. This change triggers a cascade of signaling events that ultimately lead to the transmission of visual information to the brain.

Light signal transduction is also involved in other biological processes, such as the regulation of circadian rhythms and the synthesis of vitamin D. In these cases, specialized cells contain light-sensitive receptors that allow them to detect changes in ambient light levels and adjust their physiology accordingly.

Overall, light signal transduction is a critical mechanism by which organisms are able to sense and respond to their environment.

An intravitreal injection is a medical procedure in which medication is delivered directly into the vitreous cavity of the eye, which is the clear, gel-like substance that fills the space between the lens and the retina. This type of injection is typically used to treat various eye conditions such as age-related macular degeneration, diabetic retinopathy, retinal vein occlusion, and uveitis. The medication administered in intravitreal injections can help to reduce inflammation, inhibit the growth of new blood vessels, or prevent the formation of abnormal blood vessels in the eye.

Intravitreal injections are usually performed in an outpatient setting, and the procedure typically takes only a few minutes. Before the injection, the eye is numbed with anesthetic drops to minimize discomfort. The medication is then injected into the vitreous cavity using a small needle. After the injection, patients may experience some mild discomfort or a scratchy sensation in the eye, but this usually resolves within a few hours.

While intravitreal injections are generally safe, there are some potential risks and complications associated with the procedure, including infection, bleeding, retinal detachment, and increased intraocular pressure. Patients who undergo intravitreal injections should be closely monitored by their eye care provider to ensure that any complications are promptly identified and treated.

Cilia are tiny, hair-like structures that protrude from the surface of many types of cells in the body. They are composed of a core bundle of microtubules surrounded by a protein matrix and are covered with a membrane. Cilia are involved in various cellular functions, including movement of fluid or mucus across the cell surface, detection of external stimuli, and regulation of signaling pathways.

There are two types of cilia: motile and non-motile. Motile cilia are able to move in a coordinated manner to propel fluids or particles across a surface, such as those found in the respiratory tract and reproductive organs. Non-motile cilia, also known as primary cilia, are present on most cells in the body and serve as sensory organelles that detect chemical and mechanical signals from the environment.

Defects in cilia structure or function can lead to a variety of diseases, collectively known as ciliopathies. These conditions can affect multiple organs and systems in the body, including the brain, kidneys, liver, and eyes. Examples of ciliopathies include polycystic kidney disease, Bardet-Biedl syndrome, and Meckel-Gruber syndrome.

The vitreous body, also known simply as the vitreous, is the clear, gel-like substance that fills the space between the lens and the retina in the eye. It is composed mainly of water, but also contains collagen fibers, hyaluronic acid, and other proteins. The vitreous helps to maintain the shape of the eye and provides a transparent medium for light to pass through to reach the retina. With age, the vitreous can become more liquefied and may eventually separate from the retina, leading to symptoms such as floaters or flashes of light.

Characidae is a family of freshwater fish that are commonly known as characins. They belong to the order Characiformes and can be found primarily in tropical waters of Central and South America, with a few species in Africa. The family includes over 100 genera and more than 900 described species, making it one of the most diverse families of ray-finned fishes.

Characids exhibit a wide range of body shapes, sizes, and colors, with many having adaptations for specific ecological niches. Some well-known examples of characids include piranhas (Serrasalmus spp.), tetras (Hyphessobrycon spp., Hemigrammus spp., etc.), and hatchetfish (Gasteropelecidae).

The medical significance of characids is relatively limited, as they are not typically associated with human diseases or health issues. However, some species may be kept in aquariums as pets, and proper care should be taken to maintain water quality and prevent the spread of disease among fish populations. Additionally, research on characid fishes can contribute to our understanding of evolution, ecology, and biogeography, which have broader implications for science and conservation.

DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.

The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.

DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.

It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.

Membrane proteins are a type of protein that are embedded in the lipid bilayer of biological membranes, such as the plasma membrane of cells or the inner membrane of mitochondria. These proteins play crucial roles in various cellular processes, including:

1. Cell-cell recognition and signaling
2. Transport of molecules across the membrane (selective permeability)
3. Enzymatic reactions at the membrane surface
4. Energy transduction and conversion
5. Mechanosensation and signal transduction

Membrane proteins can be classified into two main categories: integral membrane proteins, which are permanently associated with the lipid bilayer, and peripheral membrane proteins, which are temporarily or loosely attached to the membrane surface. Integral membrane proteins can further be divided into three subcategories based on their topology:

1. Transmembrane proteins, which span the entire width of the lipid bilayer with one or more alpha-helices or beta-barrels.
2. Lipid-anchored proteins, which are covalently attached to lipids in the membrane via a glycosylphosphatidylinositol (GPI) anchor or other lipid modifications.
3. Monotopic proteins, which are partially embedded in the membrane and have one or more domains exposed to either side of the bilayer.

Membrane proteins are essential for maintaining cellular homeostasis and are targets for various therapeutic interventions, including drug development and gene therapy. However, their structural complexity and hydrophobicity make them challenging to study using traditional biochemical methods, requiring specialized techniques such as X-ray crystallography, nuclear magnetic resonance (NMR) spectroscopy, and single-particle cryo-electron microscopy (cryo-EM).

'Gene expression regulation' refers to the processes that control whether, when, and where a particular gene is expressed, meaning the production of a specific protein or functional RNA encoded by that gene. This complex mechanism can be influenced by various factors such as transcription factors, chromatin remodeling, DNA methylation, non-coding RNAs, and post-transcriptional modifications, among others. Proper regulation of gene expression is crucial for normal cellular function, development, and maintaining homeostasis in living organisms. Dysregulation of gene expression can lead to various diseases, including cancer and genetic disorders.

Methylnitrosourea (MNU) is not a medical term per se, but it is a chemical compound that has been widely used in biomedical research, particularly in cancer studies. Therefore, I will provide you with a scientific definition of this compound.

Methylnitrosourea (MNU) is an alkylating agent and a nitrosourea compound. It is known to be highly mutagenic and carcinogenic. MNU acts by transferring its methyl group (-CH3) to DNA, RNA, and proteins, causing damage to these macromolecules. This methylation can lead to point mutations, chromosomal aberrations, and DNA strand breaks, which contribute to genomic instability and cancer initiation and progression.

In research settings, MNU has been used as a model carcinogen to induce tumors in various animal models, primarily rodents, to study the mechanisms of carcinogenesis and evaluate potential chemopreventive or therapeutic agents. However, due to its high toxicity and mutagenicity, handling and use of MNU require strict safety measures and precautions.

Iron metabolism disorders are a group of medical conditions that affect the body's ability to absorb, transport, store, or utilize iron properly. Iron is an essential nutrient that plays a crucial role in various bodily functions, including oxygen transportation and energy production. However, imbalances in iron levels can lead to several health issues.

There are two main types of iron metabolism disorders:

1. Iron deficiency anemia (IDA): This condition occurs when the body lacks adequate iron to produce sufficient amounts of hemoglobin, a protein in red blood cells responsible for carrying oxygen throughout the body. Causes of IDA may include inadequate dietary iron intake, blood loss, or impaired iron absorption due to conditions like celiac disease or inflammatory bowel disease.
2. Hemochromatosis: This is a genetic disorder characterized by excessive absorption and accumulation of iron in various organs, including the liver, heart, and pancreas. Over time, this excess iron can lead to organ damage and diseases such as cirrhosis, heart failure, diabetes, and arthritis. Hemochromatosis is typically caused by mutations in the HFE gene, which regulates iron absorption in the intestines.

Other iron metabolism disorders include:

* Anemia of chronic disease (ACD): A type of anemia that occurs in individuals with chronic inflammation or infection, where iron is not efficiently used for hemoglobin production due to altered regulation.
* Sideroblastic anemias: These are rare disorders characterized by the abnormal formation of ringed sideroblasts (immature red blood cells containing iron-laden mitochondria) in the bone marrow, leading to anemia and other symptoms.
* Iron-refractory iron deficiency anemia (IRIDA): A rare inherited disorder caused by mutations in the TMPRSS6 gene, resulting in impaired regulation of hepcidin, a hormone that controls iron absorption and distribution in the body. This leads to both iron deficiency and iron overload.

Proper diagnosis and management of iron metabolism disorders are essential to prevent complications and maintain overall health. Treatment options may include dietary modifications, iron supplementation, phlebotomy (bloodletting), or chelation therapy, depending on the specific disorder and its severity.

Green Fluorescent Protein (GFP) is not a medical term per se, but a scientific term used in the field of molecular biology. GFP is a protein that exhibits bright green fluorescence when exposed to light, particularly blue or ultraviolet light. It was originally discovered in the jellyfish Aequorea victoria.

In medical and biological research, scientists often use recombinant DNA technology to introduce the gene for GFP into other organisms, including bacteria, plants, and animals, including humans. This allows them to track the expression and localization of specific genes or proteins of interest in living cells, tissues, or even whole organisms.

The ability to visualize specific cellular structures or processes in real-time has proven invaluable for a wide range of research areas, from studying the development and function of organs and organ systems to understanding the mechanisms of diseases and the effects of therapeutic interventions.

Genetic therapy, also known as gene therapy, is a medical intervention that involves the use of genetic material, such as DNA or RNA, to treat or prevent diseases. It works by introducing functional genes into cells to replace missing or faulty ones caused by genetic disorders or mutations. The introduced gene is incorporated into the recipient's genome, allowing for the production of a therapeutic protein that can help manage the disease symptoms or even cure the condition.

There are several approaches to genetic therapy, including:

1. Replacing a faulty gene with a healthy one
2. Inactivating or "silencing" a dysfunctional gene causing a disease
3. Introducing a new gene into the body to help fight off a disease, such as cancer

Genetic therapy holds great promise for treating various genetic disorders, including cystic fibrosis, muscular dystrophy, hemophilia, and certain types of cancer. However, it is still an evolving field with many challenges, such as efficient gene delivery, potential immune responses, and ensuring the safety and long-term effectiveness of the therapy.

Neuroglia, also known as glial cells or simply glia, are non-neuronal cells that provide support and protection for neurons in the nervous system. They maintain homeostasis, form myelin sheaths around nerve fibers, and provide structural support. They also play a role in the immune response of the central nervous system. Some types of neuroglia include astrocytes, oligodendrocytes, microglia, and ependymal cells.

Choroidal neovascularization (CNV) is a medical term that refers to the growth of new, abnormal blood vessels in the choroid layer of the eye, which is located between the retina and the sclera. This condition typically occurs as a complication of age-related macular degeneration (AMD), although it can also be caused by other eye diseases or injuries.

In CNV, the new blood vessels that grow into the choroid layer are fragile and can leak fluid or blood, which can cause distortion or damage to the retina, leading to vision loss. Symptoms of CNV may include blurred or distorted vision, a blind spot in the center of the visual field, or changes in color perception.

Treatment for CNV typically involves medications that are designed to stop the growth of new blood vessels, such as anti-VEGF drugs, which target a protein called vascular endothelial growth factor (VEGF) that is involved in the development of new blood vessels. Laser surgery or photodynamic therapy may also be used in some cases to destroy the abnormal blood vessels and prevent further vision loss.

Neurodegenerative diseases are a group of disorders characterized by progressive and persistent loss of neuronal structure and function, often leading to cognitive decline, functional impairment, and ultimately death. These conditions are associated with the accumulation of abnormal protein aggregates, mitochondrial dysfunction, oxidative stress, chronic inflammation, and genetic mutations in the brain. Examples of neurodegenerative diseases include Alzheimer's disease, Parkinson's disease, Huntington's disease, Amyotrophic Lateral Sclerosis (ALS), and Spinal Muscular Atrophy (SMA). The underlying causes and mechanisms of these diseases are not fully understood, and there is currently no cure for most neurodegenerative disorders. Treatment typically focuses on managing symptoms and slowing disease progression.

"Drosophila" is a genus of small flies, also known as fruit flies. The most common species used in scientific research is "Drosophila melanogaster," which has been a valuable model organism for many areas of biological and medical research, including genetics, developmental biology, neurobiology, and aging.

The use of Drosophila as a model organism has led to numerous important discoveries in genetics and molecular biology, such as the identification of genes that are associated with human diseases like cancer, Parkinson's disease, and obesity. The short reproductive cycle, large number of offspring, and ease of genetic manipulation make Drosophila a powerful tool for studying complex biological processes.

Retinal horizontal cells are a type of neuron located in the outer retina of the eye, specifically in the inner nuclear layer. These cells receive input from photoreceptors (rods and cones) and provide feedback to them through their extensive lateral connections, forming a neural network that helps in processing visual information.

Horizontal cells have dendrites that branch out and connect with multiple photoreceptor cells. They respond to light by hyperpolarizing, which means they become less excitable when exposed to light. This response is the opposite of photoreceptors, which depolarize (become more excitable) in response to light.

The primary function of retinal horizontal cells is to mediate lateral inhibition, a process that helps sharpen the contrast between adjacent areas of the visual scene. By comparing the signals from neighboring photoreceptors, horizontal cells can enhance the differences in light intensity and help create a more detailed and precise image. This information is then sent to bipolar cells, which relay it further to ganglion cells and ultimately to the brain for visual perception.

Confocal microscopy is a powerful imaging technique used in medical and biological research to obtain high-resolution, contrast-rich images of thick samples. This super-resolution technology provides detailed visualization of cellular structures and processes at various depths within a specimen.

In confocal microscopy, a laser beam focused through a pinhole illuminates a small spot within the sample. The emitted fluorescence or reflected light from this spot is then collected by a detector, passing through a second pinhole that ensures only light from the focal plane reaches the detector. This process eliminates out-of-focus light, resulting in sharp images with improved contrast compared to conventional widefield microscopy.

By scanning the laser beam across the sample in a raster pattern and collecting fluorescence at each point, confocal microscopy generates optical sections of the specimen. These sections can be combined to create three-dimensional reconstructions, allowing researchers to study cellular architecture and interactions within complex tissues.

Confocal microscopy has numerous applications in medical research, including studying protein localization, tracking intracellular dynamics, analyzing cell morphology, and investigating disease mechanisms at the cellular level. Additionally, it is widely used in clinical settings for diagnostic purposes, such as analyzing skin lesions or detecting pathogens in patient samples.

Atrophy is a medical term that refers to the decrease in size and wasting of an organ or tissue due to the disappearance of cells, shrinkage of cells, or decreased number of cells. This process can be caused by various factors such as disuse, aging, degeneration, injury, or disease.

For example, if a muscle is immobilized for an extended period, it may undergo atrophy due to lack of use. Similarly, certain medical conditions like diabetes, cancer, and heart failure can lead to the wasting away of various tissues and organs in the body.

Atrophy can also occur as a result of natural aging processes, leading to decreased muscle mass and strength in older adults. In general, atrophy is characterized by a decrease in the volume or weight of an organ or tissue, which can have significant impacts on its function and overall health.

Microglia are a type of specialized immune cell found in the brain and spinal cord. They are part of the glial family, which provide support and protection to the neurons in the central nervous system (CNS). Microglia account for about 10-15% of all cells found in the CNS.

The primary role of microglia is to constantly survey their environment and eliminate any potentially harmful agents, such as pathogens, dead cells, or protein aggregates. They do this through a process called phagocytosis, where they engulf and digest foreign particles or cellular debris. In addition to their phagocytic function, microglia also release various cytokines, chemokines, and growth factors that help regulate the immune response in the CNS, promote neuronal survival, and contribute to synaptic plasticity.

Microglia can exist in different activation states depending on the nature of the stimuli they encounter. In a resting state, microglia have a small cell body with numerous branches that are constantly monitoring their surroundings. When activated by an injury, infection, or neurodegenerative process, microglia change their morphology and phenotype, retracting their processes and adopting an amoeboid shape to migrate towards the site of damage or inflammation. Based on the type of activation, microglia can release both pro-inflammatory and anti-inflammatory factors that contribute to either neuroprotection or neurotoxicity.

Dysregulation of microglial function has been implicated in several neurological disorders, including Alzheimer's disease, Parkinson's disease, multiple sclerosis, and Amyotrophic Lateral Sclerosis (ALS). Therefore, understanding the role of microglia in health and disease is crucial for developing novel therapeutic strategies to treat these conditions.

A missense mutation is a type of point mutation in which a single nucleotide change results in the substitution of a different amino acid in the protein that is encoded by the affected gene. This occurs when the altered codon (a sequence of three nucleotides that corresponds to a specific amino acid) specifies a different amino acid than the original one. The function and/or stability of the resulting protein may be affected, depending on the type and location of the missense mutation. Missense mutations can have various effects, ranging from benign to severe, depending on the importance of the changed amino acid for the protein's structure or function.

Retinal dystrophies are a group of genetic eye disorders that primarily affect the retina, a light-sensitive layer at the back of the eye. These conditions are characterized by progressive degeneration and death of photoreceptor cells (rods and cones) in the retina, leading to vision loss.

The term "dystrophy" refers to a condition that results from the abnormal or defective development and function of tissues or organs. In the case of retinal dystrophies, the photoreceptor cells do not develop or function properly, resulting in visual impairment.

Retinal dystrophies can present at any age, from infancy to adulthood, and can have varying degrees of severity. Some common symptoms include night blindness, decreased visual acuity, loss of peripheral vision, light sensitivity, and color vision abnormalities.

Examples of retinal dystrophies include retinitis pigmentosa, Stargardt disease, Usher syndrome, and Leber congenital amaurosis, among others. These conditions are typically inherited and can be caused by mutations in various genes that play a role in the development and function of the retina.

There is currently no cure for retinal dystrophies, but research is ongoing to develop treatments that may slow or halt the progression of these conditions, such as gene therapy and stem cell transplantation.

Night blindness, also known as nyctalopia, is a visual impairment characterized by the inability to see well in low light or darkness. It's not an eye condition itself but rather a symptom of various underlying eye disorders, most commonly vitamin A deficiency and retinal diseases like retinitis pigmentosa.

In a healthy eye, a molecule called rhodopsin is present in the rods (special light-sensitive cells in our eyes responsible for vision in low light conditions). This rhodopsin requires sufficient amounts of vitamin A to function properly. When there's a deficiency of vitamin A or damage to the rods, the ability to see in dim light gets affected, leading to night blindness.

People with night blindness often have difficulty adjusting to changes in light levels, such as when entering a dark room from bright sunlight. They may also experience trouble seeing stars at night, driving at dusk or dawn, and navigating in poorly lit areas. If you suspect night blindness, it's essential to consult an eye care professional for proper diagnosis and treatment of the underlying cause.

Spinocerebellar degenerations (SCDs) are a group of genetic disorders that primarily affect the cerebellum, the part of the brain responsible for coordinating muscle movements, and the spinal cord. These conditions are characterized by progressive degeneration or loss of nerve cells in the cerebellum and/or spinal cord, leading to various neurological symptoms.

SCDs are often inherited in an autosomal dominant manner, meaning that only one copy of the altered gene from either parent is enough to cause the disorder. The most common type of SCD is spinocerebellar ataxia (SCA), which includes several subtypes (SCA1, SCA2, SCA3, etc.) differentiated by their genetic causes and specific clinical features.

Symptoms of spinocerebellar degenerations may include:

1. Progressive ataxia (loss of coordination and balance)
2. Dysarthria (speech difficulty)
3. Nystagmus (involuntary eye movements)
4. Oculomotor abnormalities (problems with eye movement control)
5. Tremors or other involuntary muscle movements
6. Muscle weakness and spasticity
7. Sensory disturbances, such as numbness or tingling sensations
8. Dysphagia (difficulty swallowing)
9. Cognitive impairment in some cases

The age of onset, severity, and progression of symptoms can vary significantly among different SCD subtypes and individuals. Currently, there is no cure for spinocerebellar degenerations, but various supportive treatments and therapies can help manage symptoms and improve quality of life.

Guanylate cyclase-activating proteins (GCAPs) are a family of small, calcium-binding proteins that play a crucial role in the regulation of photoreceptor cells' light sensitivity in the eye. They are primarily located in the outer segments of rod and cone photoreceptors.

GCAPs function as sensors of intracellular calcium levels within photoreceptor cells. When calcium levels are high, GCAPs bind to and inhibit a specific type of enzyme called guanylate cyclase (GC). However, when calcium levels decrease due to light exposure, GCAPs undergo a conformational change and release their inhibition on guanylate cyclase. This activation leads to an increase in the production of cGMP (cyclic guanosine monophosphate), which in turn regulates the opening and closing of ion channels in the photoreceptor cell membrane, ultimately affecting the electrical signal transduction process that underlies vision.

Mutations in GCAPs have been linked to various retinal degenerative diseases, such as autosomal dominant cone-rod dystrophy and age-related macular degeneration, highlighting their importance in maintaining healthy visual function.

Sprague-Dawley rats are a strain of albino laboratory rats that are widely used in scientific research. They were first developed by researchers H.H. Sprague and R.C. Dawley in the early 20th century, and have since become one of the most commonly used rat strains in biomedical research due to their relatively large size, ease of handling, and consistent genetic background.

Sprague-Dawley rats are outbred, which means that they are genetically diverse and do not suffer from the same limitations as inbred strains, which can have reduced fertility and increased susceptibility to certain diseases. They are also characterized by their docile nature and low levels of aggression, making them easier to handle and study than some other rat strains.

These rats are used in a wide variety of research areas, including toxicology, pharmacology, nutrition, cancer, and behavioral studies. Because they are genetically diverse, Sprague-Dawley rats can be used to model a range of human diseases and conditions, making them an important tool in the development of new drugs and therapies.

Retinal detachment is a serious eye condition that occurs when the retina, a thin layer of tissue at the back of the eye responsible for processing light and sending visual signals to the brain, pulls away from its normal position. This can lead to significant vision loss or even blindness if not promptly treated. Retinal detachment can be caused by various factors such as aging, trauma, eye disease, or an inflammatory condition. Symptoms of retinal detachment may include sudden flashes of light, floaters, a shadow in the peripheral vision, or a curtain-like covering over part of the visual field. Immediate medical attention is necessary to prevent further damage and preserve vision.

A transgene is a segment of DNA that has been artificially transferred from one organism to another, typically between different species, to introduce a new trait or characteristic. The term "transgene" specifically refers to the genetic material that has been transferred and has become integrated into the host organism's genome. This technology is often used in genetic engineering and biomedical research, including the development of genetically modified organisms (GMOs) for agricultural purposes or the creation of animal models for studying human diseases.

Transgenes can be created using various techniques, such as molecular cloning, where a desired gene is isolated, manipulated, and then inserted into a vector (a small DNA molecule, such as a plasmid) that can efficiently enter the host organism's cells. Once inside the cell, the transgene can integrate into the host genome, allowing for the expression of the new trait in the resulting transgenic organism.

It is important to note that while transgenes can provide valuable insights and benefits in research and agriculture, their use and release into the environment are subjects of ongoing debate due to concerns about potential ecological impacts and human health risks.

Messenger RNA (mRNA) is a type of RNA (ribonucleic acid) that carries genetic information copied from DNA in the form of a series of three-base code "words," each of which specifies a particular amino acid. This information is used by the cell's machinery to construct proteins, a process known as translation. After being transcribed from DNA, mRNA travels out of the nucleus to the ribosomes in the cytoplasm where protein synthesis occurs. Once the protein has been synthesized, the mRNA may be degraded and recycled. Post-transcriptional modifications can also occur to mRNA, such as alternative splicing and addition of a 5' cap and a poly(A) tail, which can affect its stability, localization, and translation efficiency.

Electron microscopy (EM) is a type of microscopy that uses a beam of electrons to create an image of the sample being examined, resulting in much higher magnification and resolution than light microscopy. There are several types of electron microscopy, including transmission electron microscopy (TEM), scanning electron microscopy (SEM), and reflection electron microscopy (REM).

In TEM, a beam of electrons is transmitted through a thin slice of the sample, and the electrons that pass through the sample are focused to form an image. This technique can provide detailed information about the internal structure of cells, viruses, and other biological specimens, as well as the composition and structure of materials at the atomic level.

In SEM, a beam of electrons is scanned across the surface of the sample, and the electrons that are scattered back from the surface are detected to create an image. This technique can provide information about the topography and composition of surfaces, as well as the structure of materials at the microscopic level.

REM is a variation of SEM in which the beam of electrons is reflected off the surface of the sample, rather than scattered back from it. This technique can provide information about the surface chemistry and composition of materials.

Electron microscopy has a wide range of applications in biology, medicine, and materials science, including the study of cellular structure and function, disease diagnosis, and the development of new materials and technologies.

There is no medical definition for "dog diseases" as it is too broad a term. However, dogs can suffer from various health conditions and illnesses that are specific to their species or similar to those found in humans. Some common categories of dog diseases include:

1. Infectious Diseases: These are caused by viruses, bacteria, fungi, or parasites. Examples include distemper, parvovirus, kennel cough, Lyme disease, and heartworms.
2. Hereditary/Genetic Disorders: Some dogs may inherit certain genetic disorders from their parents. Examples include hip dysplasia, elbow dysplasia, progressive retinal atrophy (PRA), and degenerative myelopathy.
3. Age-Related Diseases: As dogs age, they become more susceptible to various health issues. Common age-related diseases in dogs include arthritis, dental disease, cancer, and cognitive dysfunction syndrome (CDS).
4. Nutritional Disorders: Malnutrition or improper feeding can lead to various health problems in dogs. Examples include obesity, malnutrition, and vitamin deficiencies.
5. Environmental Diseases: These are caused by exposure to environmental factors such as toxins, allergens, or extreme temperatures. Examples include heatstroke, frostbite, and toxicities from ingesting harmful substances.
6. Neurological Disorders: Dogs can suffer from various neurological conditions that affect their nervous system. Examples include epilepsy, intervertebral disc disease (IVDD), and vestibular disease.
7. Behavioral Disorders: Some dogs may develop behavioral issues due to various factors such as anxiety, fear, or aggression. Examples include separation anxiety, noise phobias, and resource guarding.

It's important to note that regular veterinary care, proper nutrition, exercise, and preventative measures can help reduce the risk of many dog diseases.

Retinal drusen are yellow-white, deposits of extracellular material that accumulate beneath the retina, most commonly in the macula. They are a common age-related finding and can also be seen in various other conditions such as inherited retinal diseases. Drusen can vary in size and number, and their presence is often associated with an increased risk of developing age-related macular degeneration (AMD), a leading cause of vision loss in older adults. However, not all individuals with drusen will develop AMD, and the significance of drusen depends on factors such as size, number, and location. It's important to monitor drusen and have regular eye examinations to assess any changes or progression that may indicate a higher risk for developing AMD.

A nonsense codon is a sequence of three nucleotides in DNA or RNA that does not code for an amino acid. Instead, it signals the end of the protein-coding region of a gene and triggers the termination of translation, the process by which the genetic code is translated into a protein.

In DNA, the nonsense codons are UAA, UAG, and UGA, which are also known as "stop codons." When these codons are encountered during translation, they cause the release of the newly synthesized polypeptide chain from the ribosome, bringing the process of protein synthesis to a halt.

Nonsense mutations are changes in the DNA sequence that result in the appearance of a nonsense codon where an amino acid-coding codon used to be. These types of mutations can lead to premature termination of translation and the production of truncated, nonfunctional proteins, which can cause genetic diseases or contribute to cancer development.

Photometry is the measurement and study of light, specifically its brightness or luminous intensity. In a medical context, photometry is often used in ophthalmology to describe diagnostic tests that measure the amount and type of light that is perceived by the eye. This can help doctors diagnose and monitor various eye conditions and diseases, such as cataracts, glaucoma, and retinal disorders. Photometry may also be used in other medical fields, such as dermatology, to evaluate the effects of different types of light on skin conditions.

Cell survival refers to the ability of a cell to continue living and functioning normally, despite being exposed to potentially harmful conditions or treatments. This can include exposure to toxins, radiation, chemotherapeutic drugs, or other stressors that can damage cells or interfere with their normal processes.

In scientific research, measures of cell survival are often used to evaluate the effectiveness of various therapies or treatments. For example, researchers may expose cells to a particular drug or treatment and then measure the percentage of cells that survive to assess its potential therapeutic value. Similarly, in toxicology studies, measures of cell survival can help to determine the safety of various chemicals or substances.

It's important to note that cell survival is not the same as cell proliferation, which refers to the ability of cells to divide and multiply. While some treatments may promote cell survival, they may also inhibit cell proliferation, making them useful for treating diseases such as cancer. Conversely, other treatments may be designed to specifically target and kill cancer cells, even if it means sacrificing some healthy cells in the process.

Hereditary Optic Atrophy, Leber type (LOA) is a mitochondrial DNA-associated inherited condition that primarily affects the optic nerve and leads to vision loss. It is characterized by the degeneration of retinal ganglion cells and their axons, which make up the optic nerve. This results in bilateral, painless, and progressive visual deterioration, typically beginning in young adulthood (14-35 years).

Leber's hereditary optic atrophy is caused by mutations in the mitochondrial DNA (mtDNA) gene MT-ND4 or MT-ND6. The condition follows a maternal pattern of inheritance, meaning that it is passed down through the mother's lineage.

The onset of LOA usually occurs in one eye first, followed by the second eye within weeks to months. Central vision is initially affected, leading to blurriness and loss of visual acuity. Color vision may also be impaired. The progression of the condition generally stabilizes after a few months, but complete recovery of vision is unlikely.

Currently, there is no cure for Leber's hereditary optic atrophy. Treatment focuses on managing symptoms and providing visual rehabilitation to help affected individuals adapt to their visual impairment.

Gene expression is the process by which the information encoded in a gene is used to synthesize a functional gene product, such as a protein or RNA molecule. This process involves several steps: transcription, RNA processing, and translation. During transcription, the genetic information in DNA is copied into a complementary RNA molecule, known as messenger RNA (mRNA). The mRNA then undergoes RNA processing, which includes adding a cap and tail to the mRNA and splicing out non-coding regions called introns. The resulting mature mRNA is then translated into a protein on ribosomes in the cytoplasm through the process of translation.

The regulation of gene expression is a complex and highly controlled process that allows cells to respond to changes in their environment, such as growth factors, hormones, and stress signals. This regulation can occur at various stages of gene expression, including transcriptional activation or repression, RNA processing, mRNA stability, and translation. Dysregulation of gene expression has been implicated in many diseases, including cancer, genetic disorders, and neurological conditions.

Carrier proteins, also known as transport proteins, are a type of protein that facilitates the movement of molecules across cell membranes. They are responsible for the selective and active transport of ions, sugars, amino acids, and other molecules from one side of the membrane to the other, against their concentration gradient. This process requires energy, usually in the form of ATP (adenosine triphosphate).

Carrier proteins have a specific binding site for the molecule they transport, and undergo conformational changes upon binding, which allows them to move the molecule across the membrane. Once the molecule has been transported, the carrier protein returns to its original conformation, ready to bind and transport another molecule.

Carrier proteins play a crucial role in maintaining the balance of ions and other molecules inside and outside of cells, and are essential for many physiological processes, including nerve impulse transmission, muscle contraction, and nutrient uptake.

Taurochenodeoxycholic acid (TCDCA) is a bile acid that is conjugated with the amino acid taurine. Bile acids are synthesized from cholesterol in the liver and released into the small intestine to aid in the digestion and absorption of fats and fat-soluble vitamins. TCDCA, along with other bile acids, is reabsorbed in the terminal ileum and transported back to the liver through the enterohepatic circulation. It plays a role in maintaining cholesterol homeostasis and has been studied for its potential therapeutic effects in various medical conditions, including gallstones, cholestatic liver diseases, and neurological disorders.

Disease progression is the worsening or advancement of a medical condition over time. It refers to the natural course of a disease, including its development, the severity of symptoms and complications, and the impact on the patient's overall health and quality of life. Understanding disease progression is important for developing appropriate treatment plans, monitoring response to therapy, and predicting outcomes.

The rate of disease progression can vary widely depending on the type of medical condition, individual patient factors, and the effectiveness of treatment. Some diseases may progress rapidly over a short period of time, while others may progress more slowly over many years. In some cases, disease progression may be slowed or even halted with appropriate medical interventions, while in other cases, the progression may be inevitable and irreversible.

In clinical practice, healthcare providers closely monitor disease progression through regular assessments, imaging studies, and laboratory tests. This information is used to guide treatment decisions and adjust care plans as needed to optimize patient outcomes and improve quality of life.

An amino acid sequence is the specific order of amino acids in a protein or peptide molecule, formed by the linking of the amino group (-NH2) of one amino acid to the carboxyl group (-COOH) of another amino acid through a peptide bond. The sequence is determined by the genetic code and is unique to each type of protein or peptide. It plays a crucial role in determining the three-dimensional structure and function of proteins.

I believe there may be some confusion in your question as "caves" are not a medical term. A cave is a natural underground space that is large enough for a person to enter and can form in a variety of ways, such as the dissolution of limestone by acidic groundwater or the collapse of a volcanic tube. If you have any questions about geology or speleology (the study of caves), I would be happy to try to help answer those!

'Drosophila melanogaster' is the scientific name for a species of fruit fly that is commonly used as a model organism in various fields of biological research, including genetics, developmental biology, and evolutionary biology. Its small size, short generation time, large number of offspring, and ease of cultivation make it an ideal subject for laboratory studies. The fruit fly's genome has been fully sequenced, and many of its genes have counterparts in the human genome, which facilitates the understanding of genetic mechanisms and their role in human health and disease.

Here is a brief medical definition:

Drosophila melanogaster (droh-suh-fih-luh meh-lon-guh-ster): A species of fruit fly used extensively as a model organism in genetic, developmental, and evolutionary research. Its genome has been sequenced, revealing many genes with human counterparts, making it valuable for understanding genetic mechanisms and their role in human health and disease.

Night vision refers to the ability to see in low light conditions, typically during night time. In a medical context, it often relates to the functionality of the eye and visual system. There are two types of night vision:

1. Scotopic vision: This is the primary type of night vision, enabled by the rod cells in our retina which are highly sensitive to light but lack color vision. During twilight or night conditions, when light levels are low, the rods take over from the cone cells (which are responsible for color and daytime vision) and provide us with limited vision, typically in shades of gray.

2. Mesopic vision: This is a state between photopic (daytime) and scotopic (night-time) vision, where both rod and cone cells contribute to vision. It allows for better color discrimination and visual acuity compared to scotopic vision alone.

In some cases, night vision can be impaired due to eye conditions such as cataracts, glaucoma, or retinal disorders. There are also medical devices called night vision goggles that amplify available light to enhance a person's ability to see in low-light environments.

Retinal pigments refer to the light-sensitive chemicals found in the retina, specifically within the photoreceptor cells called rods and cones. The main types of retinal pigments are rhodopsin (also known as visual purple) in rods and iodopsins in cones. These pigments play a crucial role in the process of vision by absorbing light and initiating a series of chemical reactions that ultimately trigger nerve impulses, which are then transmitted to the brain and interpreted as visual images. Rhodopsin is more sensitive to lower light levels and is responsible for night vision, while iodopsins are sensitive to specific wavelengths of light and contribute to color vision.

Genetic linkage is the phenomenon where two or more genetic loci (locations on a chromosome) tend to be inherited together because they are close to each other on the same chromosome. This occurs during the process of sexual reproduction, where homologous chromosomes pair up and exchange genetic material through a process called crossing over.

The closer two loci are to each other on a chromosome, the lower the probability that they will be separated by a crossover event. As a result, they are more likely to be inherited together and are said to be linked. The degree of linkage between two loci can be measured by their recombination frequency, which is the percentage of meiotic events in which a crossover occurs between them.

Linkage analysis is an important tool in genetic research, as it allows researchers to identify and map genes that are associated with specific traits or diseases. By analyzing patterns of linkage between markers (identifiable DNA sequences) and phenotypes (observable traits), researchers can infer the location of genes that contribute to those traits or diseases on chromosomes.

Ethylnitrosourea (ENU) is an alkylating agent, which is a type of chemical compound that has the ability to interact with and modify the structure of DNA. It is commonly used in laboratory research as a mutagen, which is a substance that increases the frequency of mutations or changes in the genetic material of organisms.

ENU is known to cause point mutations, which are small changes in the DNA sequence that can lead to alterations in the function of genes. This property makes ENU a valuable tool for studying gene function and for creating animal models of human diseases caused by genetic mutations.

It is important to note that ENU is a potent carcinogen, meaning it can cause cancer, and should be handled with care in laboratory settings. It is not used as a medical treatment in humans or animals.

Polymerase Chain Reaction (PCR) is a laboratory technique used to amplify specific regions of DNA. It enables the production of thousands to millions of copies of a particular DNA sequence in a rapid and efficient manner, making it an essential tool in various fields such as molecular biology, medical diagnostics, forensic science, and research.

The PCR process involves repeated cycles of heating and cooling to separate the DNA strands, allow primers (short sequences of single-stranded DNA) to attach to the target regions, and extend these primers using an enzyme called Taq polymerase, resulting in the exponential amplification of the desired DNA segment.

In a medical context, PCR is often used for detecting and quantifying specific pathogens (viruses, bacteria, fungi, or parasites) in clinical samples, identifying genetic mutations or polymorphisms associated with diseases, monitoring disease progression, and evaluating treatment effectiveness.

I believe there might be a misunderstanding in your question. "Dogs" is not a medical term or condition. It is the common name for a domesticated carnivore of the family Canidae, specifically the genus Canis, which includes wolves, foxes, and other extant and extinct species of mammals. Dogs are often kept as pets and companions, and they have been bred in a wide variety of forms and sizes for different purposes, such as hunting, herding, guarding, assisting police and military forces, and providing companionship and emotional support.

If you meant to ask about a specific medical condition or term related to dogs, please provide more context so I can give you an accurate answer.

A homozygote is an individual who has inherited the same allele (version of a gene) from both parents and therefore possesses two identical copies of that allele at a specific genetic locus. This can result in either having two dominant alleles (homozygous dominant) or two recessive alleles (homozygous recessive). In contrast, a heterozygote has inherited different alleles from each parent for a particular gene.

The term "homozygote" is used in genetics to describe the genetic makeup of an individual at a specific locus on their chromosomes. Homozygosity can play a significant role in determining an individual's phenotype (observable traits), as having two identical alleles can strengthen the expression of certain characteristics compared to having just one dominant and one recessive allele.

BALB/c is an inbred strain of laboratory mouse that is widely used in biomedical research. The strain was developed at the Institute of Cancer Research in London by Henry Baldwin and his colleagues in the 1920s, and it has since become one of the most commonly used inbred strains in the world.

BALB/c mice are characterized by their black coat color, which is determined by a recessive allele at the tyrosinase locus. They are also known for their docile and friendly temperament, making them easy to handle and work with in the laboratory.

One of the key features of BALB/c mice that makes them useful for research is their susceptibility to certain types of tumors and immune responses. For example, they are highly susceptible to developing mammary tumors, which can be induced by chemical carcinogens or viral infection. They also have a strong Th2-biased immune response, which makes them useful models for studying allergic diseases and asthma.

BALB/c mice are also commonly used in studies of genetics, neuroscience, behavior, and infectious diseases. Because they are an inbred strain, they have a uniform genetic background, which makes it easier to control for genetic factors in experiments. Additionally, because they have been bred in the laboratory for many generations, they are highly standardized and reproducible, making them ideal subjects for scientific research.

Genotype, in genetics, refers to the complete heritable genetic makeup of an individual organism, including all of its genes. It is the set of instructions contained in an organism's DNA for the development and function of that organism. The genotype is the basis for an individual's inherited traits, and it can be contrasted with an individual's phenotype, which refers to the observable physical or biochemical characteristics of an organism that result from the expression of its genes in combination with environmental influences.

It is important to note that an individual's genotype is not necessarily identical to their genetic sequence. Some genes have multiple forms called alleles, and an individual may inherit different alleles for a given gene from each parent. The combination of alleles that an individual inherits for a particular gene is known as their genotype for that gene.

Understanding an individual's genotype can provide important information about their susceptibility to certain diseases, their response to drugs and other treatments, and their risk of passing on inherited genetic disorders to their offspring.

The optic nerve, also known as the second cranial nerve, is the nerve that transmits visual information from the retina to the brain. It is composed of approximately one million nerve fibers that carry signals related to vision, such as light intensity and color, from the eye's photoreceptor cells (rods and cones) to the visual cortex in the brain. The optic nerve is responsible for carrying this visual information so that it can be processed and interpreted by the brain, allowing us to see and perceive our surroundings. Damage to the optic nerve can result in vision loss or impairment.

I'm sorry for any confusion, but "Yemen" is not a medical term. It is a country located in the southern part of the Arabian Peninsula in Western Asia. If you have any questions about medical conditions, treatments, or health-related topics, I would be happy to help with those!

Neurons, also known as nerve cells or neurocytes, are specialized cells that constitute the basic unit of the nervous system. They are responsible for receiving, processing, and transmitting information and signals within the body. Neurons have three main parts: the dendrites, the cell body (soma), and the axon. The dendrites receive signals from other neurons or sensory receptors, while the axon transmits these signals to other neurons, muscles, or glands. The junction between two neurons is called a synapse, where neurotransmitters are released to transmit the signal across the gap (synaptic cleft) to the next neuron. Neurons vary in size, shape, and structure depending on their function and location within the nervous system.

Eye diseases are a range of conditions that affect the eye or visual system, causing damage to vision and, in some cases, leading to blindness. These diseases can be categorized into various types, including:

1. Refractive errors: These include myopia (nearsightedness), hyperopia (farsightedness), astigmatism, and presbyopia, which affect the way light is focused on the retina and can usually be corrected with glasses or contact lenses.
2. Cataracts: A clouding of the lens inside the eye that leads to blurry vision, glare, and decreased contrast sensitivity. Cataract surgery is the most common treatment for this condition.
3. Glaucoma: A group of diseases characterized by increased pressure in the eye, leading to damage to the optic nerve and potential blindness if left untreated. Treatment includes medications, laser therapy, or surgery.
4. Age-related macular degeneration (AMD): A progressive condition that affects the central part of the retina called the macula, causing blurry vision and, in advanced stages, loss of central vision. Treatment may include anti-VEGF injections, laser therapy, or nutritional supplements.
5. Diabetic retinopathy: A complication of diabetes that affects the blood vessels in the retina, leading to bleeding, leakage, and potential blindness if left untreated. Treatment includes laser therapy, anti-VEGF injections, or surgery.
6. Retinal detachment: A separation of the retina from its underlying tissue, which can lead to vision loss if not treated promptly with surgery.
7. Amblyopia (lazy eye): A condition where one eye does not develop normal vision, often due to a misalignment or refractive error in childhood. Treatment includes correcting the underlying problem and encouraging the use of the weaker eye through patching or other methods.
8. Strabismus (crossed eyes): A misalignment of the eyes that can lead to amblyopia if not treated promptly with surgery, glasses, or other methods.
9. Corneal diseases: Conditions that affect the transparent outer layer of the eye, such as keratoconus, Fuchs' dystrophy, and infectious keratitis, which can lead to vision loss if not treated promptly.
10. Uveitis: Inflammation of the middle layer of the eye, which can cause vision loss if not treated promptly with anti-inflammatory medications or surgery.

Ceruloplasmin is a protein found in blood plasma that binds and transports copper ions. It plays a crucial role in copper metabolism, including the oxidation of ferrous iron to ferric iron, which is necessary for the incorporation of iron into transferrin, another protein responsible for transporting iron throughout the body. Ceruloplasmin also acts as an antioxidant by scavenging free radicals and has been implicated in neurodegenerative disorders like Alzheimer's disease and Wilson's disease, a genetic disorder characterized by abnormal copper accumulation in various organs.

A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.

In the field of medicine, "time factors" refer to the duration of symptoms or time elapsed since the onset of a medical condition, which can have significant implications for diagnosis and treatment. Understanding time factors is crucial in determining the progression of a disease, evaluating the effectiveness of treatments, and making critical decisions regarding patient care.

For example, in stroke management, "time is brain," meaning that rapid intervention within a specific time frame (usually within 4.5 hours) is essential to administering tissue plasminogen activator (tPA), a clot-busting drug that can minimize brain damage and improve patient outcomes. Similarly, in trauma care, the "golden hour" concept emphasizes the importance of providing definitive care within the first 60 minutes after injury to increase survival rates and reduce morbidity.

Time factors also play a role in monitoring the progression of chronic conditions like diabetes or heart disease, where regular follow-ups and assessments help determine appropriate treatment adjustments and prevent complications. In infectious diseases, time factors are crucial for initiating antibiotic therapy and identifying potential outbreaks to control their spread.

Overall, "time factors" encompass the significance of recognizing and acting promptly in various medical scenarios to optimize patient outcomes and provide effective care.

An axon is a long, slender extension of a neuron (a type of nerve cell) that conducts electrical impulses (nerve impulses) away from the cell body to target cells, such as other neurons or muscle cells. Axons can vary in length from a few micrometers to over a meter long and are typically surrounded by a myelin sheath, which helps to insulate and protect the axon and allows for faster transmission of nerve impulses.

Axons play a critical role in the functioning of the nervous system, as they provide the means by which neurons communicate with one another and with other cells in the body. Damage to axons can result in serious neurological problems, such as those seen in spinal cord injuries or neurodegenerative diseases like multiple sclerosis.

Vision disorders refer to a wide range of conditions that affect the visual system and result in various symptoms, such as blurry vision, double vision, distorted vision, impaired depth perception, and difficulty with visual tracking or focusing. These disorders can be categorized into several types, including:

1. Refractive errors: These occur when the shape of the eye prevents light from focusing directly on the retina, resulting in blurry vision. Examples include myopia (nearsightedness), hyperopia (farsightedness), astigmatism, and presbyopia (age-related loss of near vision).
2. Strabismus: Also known as crossed eyes or walleye, strabismus is a misalignment of the eyes where they point in different directions, which can lead to double vision or loss of depth perception.
3. Amblyopia: Often called lazy eye, amblyopia is a condition where one eye has reduced vision due to lack of proper visual development during childhood. It may be caused by strabismus, refractive errors, or other factors that interfere with normal visual development.
4. Accommodative disorders: These involve problems with the focusing ability of the eyes, such as convergence insufficiency (difficulty focusing on close objects) and accommodative dysfunction (inability to maintain clear vision at different distances).
5. Binocular vision disorders: These affect how the eyes work together as a team, leading to issues like poor depth perception, eye strain, and headaches. Examples include convergence insufficiency, divergence excess, and suppression.
6. Ocular motility disorders: These involve problems with eye movement, such as nystagmus (involuntary eye movements), strabismus, or restricted extraocular muscle function.
7. Visual processing disorders: These affect the brain's ability to interpret and make sense of visual information, even when the eyes themselves are healthy. Symptoms may include difficulty with reading, recognizing shapes and objects, and understanding spatial relationships.
8. Low vision: This term refers to significant visual impairment that cannot be fully corrected with glasses, contact lenses, medication, or surgery. It includes conditions like macular degeneration, diabetic retinopathy, glaucoma, and cataracts.
9. Blindness: Complete loss of sight in both eyes, which can be caused by various factors such as injury, disease, or genetic conditions.

An allele is a variant form of a gene that is located at a specific position on a specific chromosome. Alleles are alternative forms of the same gene that arise by mutation and are found at the same locus or position on homologous chromosomes.

Each person typically inherits two copies of each gene, one from each parent. If the two alleles are identical, a person is said to be homozygous for that trait. If the alleles are different, the person is heterozygous.

For example, the ABO blood group system has three alleles, A, B, and O, which determine a person's blood type. If a person inherits two A alleles, they will have type A blood; if they inherit one A and one B allele, they will have type AB blood; if they inherit two B alleles, they will have type B blood; and if they inherit two O alleles, they will have type O blood.

Alleles can also influence traits such as eye color, hair color, height, and other physical characteristics. Some alleles are dominant, meaning that only one copy of the allele is needed to express the trait, while others are recessive, meaning that two copies of the allele are needed to express the trait.

"Newborn animals" refers to the very young offspring of animals that have recently been born. In medical terminology, newborns are often referred to as "neonates," and they are classified as such from birth until about 28 days of age. During this time period, newborn animals are particularly vulnerable and require close monitoring and care to ensure their survival and healthy development.

The specific needs of newborn animals can vary widely depending on the species, but generally, they require warmth, nutrition, hydration, and protection from harm. In many cases, newborns are unable to regulate their own body temperature or feed themselves, so they rely heavily on their mothers for care and support.

In medical settings, newborn animals may be examined and treated by veterinarians to ensure that they are healthy and receiving the care they need. This can include providing medical interventions such as feeding tubes, antibiotics, or other treatments as needed to address any health issues that arise. Overall, the care and support of newborn animals is an important aspect of animal medicine and conservation efforts.

Apoptosis Inducing Factor (AIF) is a protein that triggers programmed cell death, also known as apoptosis. It is primarily located in the mitochondria, but upon activation, it translocates to the nucleus where it contributes to DNA fragmentation and chromatin condensation, which are key features of apoptosis. AIF can be released from the mitochondria in response to various cellular stressors or signals, such as during development, tissue homeostasis, or in response to certain types of cellular damage or injury.

Gliosis is a term used in histopathology and neuroscience to describe the reaction of support cells in the brain, called glial cells, to injury or disease. This response includes an increase in the number and size of glial cells, as well as changes in their shape and function. The most common types of glial cells involved in gliosis are astrocytes and microglia.

Gliosis can be triggered by a variety of factors, including trauma, infection, inflammation, neurodegenerative diseases, and stroke. In response to injury or disease, astrocytes become hypertrophied (enlarged) and undergo changes in their gene expression profile that can lead to the production of various proteins, such as glial fibrillary acidic protein (GFAP). These changes can result in the formation of a dense network of astrocytic processes, which can contribute to the formation of a glial scar.

Microglia, another type of glial cell, become activated during gliosis and play a role in the immune response in the central nervous system (CNS). They can release pro-inflammatory cytokines, chemokines, and reactive oxygen species that contribute to the inflammatory response.

While gliosis is a protective response aimed at containing damage and promoting tissue repair, it can also have negative consequences. For example, the formation of glial scars can impede axonal regeneration and contribute to neurological deficits. Additionally, chronic activation of microglia has been implicated in various neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease.

Caspase-12 is a type of protease enzyme that belongs to the family of caspases, which are cysteine-aspartic acid proteases playing essential roles in programmed cell death (apoptosis). Caspase-12 is primarily expressed in the endoplasmic reticulum (ER) and is involved in ER stress-induced apoptosis.

During ER stress, misfolded or unfolded proteins accumulate in the ER lumen, triggering an adaptive response called the unfolded protein response (UPR). If the UPR fails to restore ER homeostasis, caspase-12 is activated and contributes to the initiation of the apoptotic process.

However, it's worth noting that the role of caspase-12 in human apoptosis remains controversial, as some studies suggest its function might be limited or absent in humans compared to other species like mice.

"Gene knock-in techniques" refer to a group of genetic engineering methods used in molecular biology to precisely insert or "knock-in" a specific gene or DNA sequence into a specific location within the genome of an organism. This is typically done using recombinant DNA technology and embryonic stem (ES) cells, although other techniques such as CRISPR-Cas9 can also be used.

The goal of gene knock-in techniques is to create a stable and heritable genetic modification in which the introduced gene is expressed at a normal level and in the correct spatial and temporal pattern. This allows researchers to study the function of individual genes, investigate gene regulation, model human diseases, and develop potential therapies for genetic disorders.

In general, gene knock-in techniques involve several steps: first, a targeting vector is constructed that contains the desired DNA sequence flanked by homologous regions that match the genomic locus where the insertion will occur. This vector is then introduced into ES cells, which are cultured and allowed to undergo homologous recombination with the endogenous genome. The resulting modified ES cells are selected for and characterized to confirm the correct integration of the DNA sequence. Finally, the modified ES cells are used to generate chimeric animals, which are then bred to produce offspring that carry the genetic modification in their germline.

Overall, gene knock-in techniques provide a powerful tool for studying gene function and developing new therapies for genetic diseases.

Neuroprotective agents are substances that protect neurons or nerve cells from damage, degeneration, or death caused by various factors such as trauma, inflammation, oxidative stress, or excitotoxicity. These agents work through different mechanisms, including reducing the production of free radicals, inhibiting the release of glutamate (a neurotransmitter that can cause cell damage in high concentrations), promoting the growth and survival of neurons, and preventing apoptosis (programmed cell death). Neuroprotective agents have been studied for their potential to treat various neurological disorders, including stroke, traumatic brain injury, Parkinson's disease, Alzheimer's disease, and multiple sclerosis. However, more research is needed to fully understand their mechanisms of action and to develop effective therapies.

Cytoprotection refers to the protection of cells, particularly from harmful agents or damaging conditions. This can be achieved through various mechanisms, such as:

1. Activation of cellular defense pathways that help cells resist damage.
2. Inhibition of oxidative stress and inflammation, which can cause cellular damage.
3. Enhancement of cell repair processes, enabling cells to recover from damage more effectively.
4. Prevention of apoptosis (programmed cell death) or promotion of cell survival signals.

In the medical context, cytoprotective agents are often used to protect tissues and organs from injury due to various factors like chemotherapy, radiation therapy, ischemia-reperfusion injury, or inflammation. These agents can include antioxidants, anti-inflammatory drugs, growth factors, and other compounds that help maintain cellular integrity and function.

Phospholipase C beta (PLCβ) is an enzyme that plays a crucial role in intracellular signaling transduction pathways. It is a subtype of Phospholipase C, which is responsible for cleaving phospholipids into secondary messengers, thereby mediating various cellular responses.

PLCβ is activated by G protein-coupled receptors (GPCRs) and can be found in various tissues throughout the body. Once activated, PLCβ hydrolyzes a specific phospholipid, PIP2 (Phosphatidylinositol 4,5-bisphosphate), into two secondary messengers: IP3 (Inositol 1,4,5-trisphosphate) and DAG (Diacylglycerol). These second messengers then trigger a series of downstream events, such as calcium mobilization and protein kinase C activation, which ultimately lead to changes in cell functions, including gene expression, cell growth, differentiation, and secretion.

There are four isoforms of PLCβ (PLCβ1, PLCβ2, PLCβ3, and PLCβ4) that differ in their tissue distribution, regulation, and substrate specificity. Mutations or dysregulation of PLCβ have been implicated in several diseases, including cancer, cardiovascular disease, and neurological disorders.

Glial Fibrillary Acidic Protein (GFAP) is a type of intermediate filament protein that is primarily found in astrocytes, which are a type of star-shaped glial cells in the central nervous system (CNS). These proteins play an essential role in maintaining the structural integrity and stability of astrocytes. They also participate in various cellular processes such as responding to injury, providing support to neurons, and regulating the extracellular environment.

GFAP is often used as a marker for astrocytic activation or reactivity, which can occur in response to CNS injuries, neuroinflammation, or neurodegenerative diseases. Elevated GFAP levels in cerebrospinal fluid (CSF) or blood can indicate astrocyte damage or dysfunction and are associated with several neurological conditions, including traumatic brain injury, stroke, multiple sclerosis, Alzheimer's disease, and Alexander's disease.

Amacrine cells are a type of neuron found in the inner nuclear layer of the retina, a light-sensitive tissue located at the back of the eye. These interneurons derive their name from the Greek word "amakrin," meaning "short-tailed," due to their short or absent axons.

Amacrine cells play a crucial role in processing and transmitting visual information within the retina. They receive input from bipolar cells, another type of retinal neuron, and synapse onto ganglion cells, which transmit visual signals to the brain via the optic nerve.

There are more than 30 different types of amacrine cells identified based on their morphology, neurotransmitter expression, and synaptic connections. These diverse cells contribute to various retinal functions, such as motion detection, contrast enhancement, direction selectivity, and spatial and temporal processing of visual signals.

Some amacrine cells release the neurotransmitter gamma-aminobutyric acid (GABA), which inhibits the activity of target neurons, while others use excitatory neurotransmitters like acetylcholine or glutamate. The intricate interplay between these various types of amacrine cells and other retinal neurons enables the retina to perform complex computations on visual information before it is relayed to the brain.

Alström Syndrome is a rare inherited genetic disorder characterized by the combination of several features, including:

1. Progressive visual impairment due to retinal degeneration (retinitis pigmentosa), which typically begins in childhood and can lead to blindness.
2. Hearing loss, which can also begin in childhood and progress over time.
3. Obesity, which often develops in early childhood and can lead to type 2 diabetes, high blood pressure, and other cardiovascular complications.
4. Dilated cardiomyopathy, a condition in which the heart muscle becomes weakened and enlarged, leading to heart failure.
5. Kidney disease, which can range from mild to severe and may require dialysis or transplantation.
6. Neurological symptoms, such as developmental delays, cognitive impairment, and movement disorders.
7. Hormonal imbalances, including problems with growth hormone, thyroid function, and sexual development.

Alström Syndrome is caused by mutations in the ALMS1 gene, which provides instructions for making a protein that is believed to play a role in maintaining the structure and function of various organelles within cells. The disorder is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition.

There is no cure for Alström Syndrome, but early diagnosis and management of its various symptoms can help improve quality of life and prolong survival. Treatment typically involves a multidisciplinary approach, with input from specialists such as ophthalmologists, audiologists, cardiologists, nephrologists, endocrinologists, and neurologists.

Oxidative stress is defined as an imbalance between the production of reactive oxygen species (free radicals) and the body's ability to detoxify them or repair the damage they cause. This imbalance can lead to cellular damage, oxidation of proteins, lipids, and DNA, disruption of cellular functions, and activation of inflammatory responses. Prolonged or excessive oxidative stress has been linked to various health conditions, including cancer, cardiovascular diseases, neurodegenerative disorders, and aging-related diseases.

A genetic vector is a vehicle, often a plasmid or a virus, that is used to introduce foreign DNA into a host cell as part of genetic engineering or gene therapy techniques. The vector contains the desired gene or genes, along with regulatory elements such as promoters and enhancers, which are needed for the expression of the gene in the target cells.

The choice of vector depends on several factors, including the size of the DNA to be inserted, the type of cell to be targeted, and the efficiency of uptake and expression required. Commonly used vectors include plasmids, adenoviruses, retroviruses, and lentiviruses.

Plasmids are small circular DNA molecules that can replicate independently in bacteria. They are often used as cloning vectors to amplify and manipulate DNA fragments. Adenoviruses are double-stranded DNA viruses that infect a wide range of host cells, including human cells. They are commonly used as gene therapy vectors because they can efficiently transfer genes into both dividing and non-dividing cells.

Retroviruses and lentiviruses are RNA viruses that integrate their genetic material into the host cell's genome. This allows for stable expression of the transgene over time. Lentiviruses, a subclass of retroviruses, have the advantage of being able to infect non-dividing cells, making them useful for gene therapy applications in post-mitotic tissues such as neurons and muscle cells.

Overall, genetic vectors play a crucial role in modern molecular biology and medicine, enabling researchers to study gene function, develop new therapies, and modify organisms for various purposes.

A point mutation is a type of genetic mutation where a single nucleotide base (A, T, C, or G) in DNA is altered, deleted, or substituted with another nucleotide. Point mutations can have various effects on the organism, depending on the location of the mutation and whether it affects the function of any genes. Some point mutations may not have any noticeable effect, while others might lead to changes in the amino acids that make up proteins, potentially causing diseases or altering traits. Point mutations can occur spontaneously due to errors during DNA replication or be inherited from parents.

Phosphoric diester hydrolases are a class of enzymes that catalyze the hydrolysis of phosphoric diester bonds. These enzymes are also known as phosphatases or nucleotidases. They play important roles in various biological processes, such as signal transduction, metabolism, and regulation of cellular activities.

Phosphoric diester hydrolases can be further classified into several subclasses based on their substrate specificity and catalytic mechanism. For example, alkaline phosphatases (ALPs) are a group of phosphoric diester hydrolases that preferentially hydrolyze phosphomonoester bonds in a variety of organic molecules, releasing phosphate ions and alcohols. On the other hand, nucleotidases are a subclass of phosphoric diester hydrolases that specifically hydrolyze the phosphodiester bonds in nucleotides, releasing nucleosides and phosphate ions.

Overall, phosphoric diester hydrolases are essential for maintaining the balance of various cellular processes by regulating the levels of phosphorylated molecules and nucleotides.

Fluorescence microscopy is a type of microscopy that uses fluorescent dyes or proteins to highlight and visualize specific components within a sample. In this technique, the sample is illuminated with high-energy light, typically ultraviolet (UV) or blue light, which excites the fluorescent molecules causing them to emit lower-energy, longer-wavelength light, usually visible light in the form of various colors. This emitted light is then collected by the microscope and detected to produce an image.

Fluorescence microscopy has several advantages over traditional brightfield microscopy, including the ability to visualize specific structures or molecules within a complex sample, increased sensitivity, and the potential for quantitative analysis. It is widely used in various fields of biology and medicine, such as cell biology, neuroscience, and pathology, to study the structure, function, and interactions of cells and proteins.

There are several types of fluorescence microscopy techniques, including widefield fluorescence microscopy, confocal microscopy, two-photon microscopy, and total internal reflection fluorescence (TIRF) microscopy, each with its own strengths and limitations. These techniques can provide valuable insights into the behavior of cells and proteins in health and disease.

In situ hybridization (ISH) is a molecular biology technique used to detect and localize specific nucleic acid sequences, such as DNA or RNA, within cells or tissues. This technique involves the use of a labeled probe that is complementary to the target nucleic acid sequence. The probe can be labeled with various types of markers, including radioisotopes, fluorescent dyes, or enzymes.

During the ISH procedure, the labeled probe is hybridized to the target nucleic acid sequence in situ, meaning that the hybridization occurs within the intact cells or tissues. After washing away unbound probe, the location of the labeled probe can be visualized using various methods depending on the type of label used.

In situ hybridization has a wide range of applications in both research and diagnostic settings, including the detection of gene expression patterns, identification of viral infections, and diagnosis of genetic disorders.

Visual fields refer to the total area in which objects can be seen while keeping the eyes focused on a central point. It is the entire area that can be observed using peripheral (side) vision while the eye gazes at a fixed point. A visual field test is used to detect blind spots or gaps (scotomas) in a person's vision, which could indicate various medical conditions such as glaucoma, retinal damage, optic nerve disease, brain tumors, or strokes. The test measures both the central and peripheral vision and maps the entire area that can be seen when focusing on a single point.

Consanguinity is a medical and genetic term that refers to the degree of genetic relationship between two individuals who share common ancestors. Consanguineous relationships exist when people are related by blood, through a common ancestor or siblings who have children together. The closer the relationship between the two individuals, the higher the degree of consanguinity.

The degree of consanguinity is typically expressed as a percentage or fraction, with higher values indicating a closer genetic relationship. For example, first-degree relatives, such as parents and children or full siblings, share approximately 50% of their genes and have a consanguinity coefficient of 0.25 (or 25%).

Consanguinity can increase the risk of certain genetic disorders and birth defects in offspring due to the increased likelihood of sharing harmful recessive genes. The risks depend on the degree of consanguinity, with closer relationships carrying higher risks. It is important for individuals who are planning to have children and have a history of consanguinity to consider genetic counseling and testing to assess their risk of passing on genetic disorders.

Chromosome mapping, also known as physical mapping, is the process of determining the location and order of specific genes or genetic markers on a chromosome. This is typically done by using various laboratory techniques to identify landmarks along the chromosome, such as restriction enzyme cutting sites or patterns of DNA sequence repeats. The resulting map provides important information about the organization and structure of the genome, and can be used for a variety of purposes, including identifying the location of genes associated with genetic diseases, studying evolutionary relationships between organisms, and developing genetic markers for use in breeding or forensic applications.

Paraneoplastic cerebellar degeneration (PCD) is a rare disorder characterized by progressive damage to the cerebellum, the part of the brain responsible for coordinating muscle movements. It is considered a paraneoplastic syndrome, which means it is caused by an abnormal immune system response to a cancerous tumor (neoplasm) located elsewhere in the body.

In PCD, antibodies produced by the immune system to fight the tumor mistakenly attack proteins in the cerebellum that are similar to those found in the tumor. This leads to inflammation and degeneration of the Purkinje cells, a type of neuron critical for maintaining balance and coordinating movements.

PCD can present with symptoms such as unsteady gait, loss of coordination, slurred speech, nystagmus (involuntary eye movement), and tremors. These symptoms often develop rapidly, over the course of days to weeks, and may progress even after the tumor has been removed or treated.

PCD is associated with several types of cancers, including small cell lung cancer, breast cancer, ovarian cancer, Hodgkin's lymphoma, and others. Early diagnosis and treatment of the underlying cancer are essential to slowing down the progression of PCD and improving outcomes.

Color vision is the ability to perceive and differentiate colors, which is a result of the way that our eyes and brain process different wavelengths of light. In the eye, there are two types of photoreceptor cells called rods and cones. While rods are more sensitive to low levels of light and help us see in dim conditions, cones are responsible for color vision.

There are three types of cone cells in the human eye, each containing a different type of pigment that is sensitive to specific wavelengths of light. One type of cone cell is most sensitive to short wavelengths (blue light), another is most sensitive to medium wavelengths (green light), and the third is most sensitive to long wavelengths (red light). When light enters the eye, it is absorbed by these pigments in the cones, which then send signals to the brain. The brain interprets these signals and translates them into the perception of color.

People with normal color vision can distinguish between millions of different colors based on the specific combinations of wavelengths that are present in a given scene. However, some people have deficiencies or abnormalities in their color vision, which can make it difficult or impossible to distinguish between certain colors. These conditions are known as color vision deficiencies or color blindness.

A zebrafish is a freshwater fish species belonging to the family Cyprinidae and the genus Danio. Its name is derived from its distinctive striped pattern that resembles a zebra's. Zebrafish are often used as model organisms in scientific research, particularly in developmental biology, genetics, and toxicology studies. They have a high fecundity rate, transparent embryos, and a rapid development process, making them an ideal choice for researchers. However, it is important to note that providing a medical definition for zebrafish may not be entirely accurate or relevant since they are primarily used in biological research rather than clinical medicine.

An animal model in medicine refers to the use of non-human animals in experiments to understand, predict, and test responses and effects of various biological and chemical interactions that may also occur in humans. These models are used when studying complex systems or processes that cannot be easily replicated or studied in human subjects, such as genetic manipulation or exposure to harmful substances. The choice of animal model depends on the specific research question being asked and the similarities between the animal's and human's biological and physiological responses. Examples of commonly used animal models include mice, rats, rabbits, guinea pigs, and non-human primates.

Exons are the coding regions of DNA that remain in the mature, processed mRNA after the removal of non-coding intronic sequences during RNA splicing. These exons contain the information necessary to encode proteins, as they specify the sequence of amino acids within a polypeptide chain. The arrangement and order of exons can vary between different genes and even between different versions of the same gene (alternative splicing), allowing for the generation of multiple protein isoforms from a single gene. This complexity in exon structure and usage significantly contributes to the diversity and functionality of the proteome.

Subacute Combined Degeneration (SCD) is a medical condition that affects the spinal cord and is primarily caused by vitamin B12 deficiency. The term "subacute" refers to the moderate speed of progression of the disease, while "combined degeneration" describes the damage to both the white and gray matter of the spinal cord.

In SCD, the degeneration of the spinal cord occurs in a characteristic pattern, affecting the dorsal columns (posterior column) and lateral corticospinal tracts. This results in various neurological symptoms such as numbness, tingling, weakness, and loss of vibration and position sense in the legs, which can also ascend to affect the arms. Additionally, patients may experience gait disturbances, ataxia (loss of coordination), and urinary or fecal incontinence.

The condition is often associated with pernicious anemia, an autoimmune disorder that impairs vitamin B12 absorption from food. However, other causes of vitamin B12 deficiency, such as dietary insufficiency, gastrointestinal disorders, or certain medications, can also lead to SCD. Early diagnosis and treatment with vitamin B12 supplementation are crucial for preventing further neurological damage and improving symptoms.

Protein transport, in the context of cellular biology, refers to the process by which proteins are actively moved from one location to another within or between cells. This is a crucial mechanism for maintaining proper cell function and regulation.

Intracellular protein transport involves the movement of proteins within a single cell. Proteins can be transported across membranes (such as the nuclear envelope, endoplasmic reticulum, Golgi apparatus, or plasma membrane) via specialized transport systems like vesicles and transport channels.

Intercellular protein transport refers to the movement of proteins from one cell to another, often facilitated by exocytosis (release of proteins in vesicles) and endocytosis (uptake of extracellular substances via membrane-bound vesicles). This is essential for communication between cells, immune response, and other physiological processes.

It's important to note that any disruption in protein transport can lead to various diseases, including neurological disorders, cancer, and metabolic conditions.

A visual field test is a method used to measure an individual's entire scope of vision, which includes what can be seen straight ahead and in peripheral (or side) vision. During the test, the person being tested is asked to focus on a central point while gradually identifying the appearance of objects moving into their peripheral vision. The visual field test helps detect blind spots (scotomas) or gaps in the visual field, which can be caused by various conditions such as glaucoma, brain injury, optic nerve damage, or retinal disorders. It's an essential tool for diagnosing and monitoring eye-related diseases and conditions.

"Cells, cultured" is a medical term that refers to cells that have been removed from an organism and grown in controlled laboratory conditions outside of the body. This process is called cell culture and it allows scientists to study cells in a more controlled and accessible environment than they would have inside the body. Cultured cells can be derived from a variety of sources, including tissues, organs, or fluids from humans, animals, or cell lines that have been previously established in the laboratory.

Cell culture involves several steps, including isolation of the cells from the tissue, purification and characterization of the cells, and maintenance of the cells in appropriate growth conditions. The cells are typically grown in specialized media that contain nutrients, growth factors, and other components necessary for their survival and proliferation. Cultured cells can be used for a variety of purposes, including basic research, drug development and testing, and production of biological products such as vaccines and gene therapies.

It is important to note that cultured cells may behave differently than they do in the body, and results obtained from cell culture studies may not always translate directly to human physiology or disease. Therefore, it is essential to validate findings from cell culture experiments using additional models and ultimately in clinical trials involving human subjects.

Retinoids are a class of chemical compounds that are derivatives of vitamin A. They are widely used in dermatology for the treatment of various skin conditions, including acne, psoriasis, and photoaging. Retinoids can help to reduce inflammation, improve skin texture and tone, and stimulate collagen production.

Retinoids work by binding to specific receptors in the skin cells, which triggers a series of biochemical reactions that regulate gene expression and promote cell differentiation and turnover. This can help to unclog pores, reduce the appearance of fine lines and wrinkles, and improve the overall health and appearance of the skin.

There are several different types of retinoids used in skincare products, including retinoic acid, retinaldehyde, and retinol. Retinoic acid is the most potent form of retinoid and is available by prescription only. Retinaldehyde and retinol are weaker forms of retinoid that can be found in over-the-counter skincare products.

While retinoids can be highly effective for treating various skin conditions, they can also cause side effects such as dryness, irritation, and sensitivity to the sun. It is important to use retinoids as directed by a healthcare professional and to follow proper sun protection measures when using these products.

Gene transfer techniques, also known as gene therapy, refer to medical procedures where genetic material is introduced into an individual's cells or tissues to treat or prevent diseases. This can be achieved through various methods:

1. **Viral Vectors**: The most common method uses modified viruses, such as adenoviruses, retroviruses, or lentiviruses, to carry the therapeutic gene into the target cells. The virus infects the cell and inserts the new gene into the cell's DNA.

2. **Non-Viral Vectors**: These include methods like electroporation (using electric fields to create pores in the cell membrane), gene guns (shooting gold particles coated with DNA into cells), or liposomes (tiny fatty bubbles that can enclose DNA).

3. **Direct Injection**: In some cases, the therapeutic gene can be directly injected into a specific tissue or organ.

The goal of gene transfer techniques is to supplement or replace a faulty gene with a healthy one, thereby correcting the genetic disorder. However, these techniques are still largely experimental and have their own set of challenges, including potential immune responses, issues with accurate targeting, and risks of mutations or cancer development.

I am not aware of a medical definition for the term "darkness." In general, darkness refers to the absence of light. It is not a term that is commonly used in the medical field, and it does not have a specific clinical meaning. If you have a question about a specific medical term or concept, I would be happy to try to help you understand it.

Group II Chaperonins are large, protein-based molecular machines found in the cells of organisms across all domains of life (archaea, bacteria, and eukaryotes). They play a crucial role in facilitating the proper folding of other proteins within the cell. Unlike their Group I counterparts, which are found only in bacteria and archaea, Group II Chaperonins are present in both the cytosol and organelles (such as mitochondria and chloroplasts) of eukaryotic cells.

Group II Chaperonins have a unique structure, forming double-ring complexes composed of multiple subunits. In humans, for example, the Group II Chaperonin known as TCP-1 Ring Complex (TRiC) or CCT (Chaperonin Containing TCP-1) consists of two back-to-back rings, each containing eight different subunits (CCT1-8).

These chaperonins function by encapsulating unfolded proteins within their central cavity. Through ATP-driven conformational changes, they facilitate the folding of these client proteins into their correct three-dimensional structures, thereby preventing protein misfolding and aggregation that can lead to various diseases, including neurodegenerative disorders and cancer.

Arrestins are a family of proteins that play a crucial role in regulating G protein-coupled receptor (GPCR) signaling. There are four main types of arrestins: visual arrestin (also known as arr1 or S-arrestin), β-arrestin1 (also known as arr2 or Kon/Vec), β-arrestin2 (also known as arr3 or hTHT), and arrestin-domain containing protein 1 (ARRDC1).

Arrestins bind to the intracellular domains of activated GPCRs, which leads to several outcomes:

1. They prevent further activation of G proteins by the receptor, effectively "arresting" the signal transduction process.
2. They promote the internalization (endocytosis) of the receptor from the cell membrane into endosomes, where it can be either degraded or recycled back to the cell surface.
3. They act as scaffolds for various signaling complexes and mediate interactions between GPCRs and other intracellular signaling proteins, leading to the activation of different signaling pathways.

Overall, arrestins play a critical role in fine-tuning GPCR signaling, ensuring appropriate cellular responses to hormones, neurotransmitters, and other extracellular signals.

Basic-leucine zipper (bZIP) transcription factors are a family of transcriptional regulatory proteins characterized by the presence of a basic region and a leucine zipper motif. The basic region, which is rich in basic amino acids such as lysine and arginine, is responsible for DNA binding, while the leucine zipper motif mediates protein-protein interactions and dimerization.

BZIP transcription factors play important roles in various cellular processes, including gene expression regulation, cell growth, differentiation, and stress response. They bind to specific DNA sequences called AP-1 sites, which are often found in the promoter regions of target genes. BZIP transcription factors can form homodimers or heterodimers with other bZIP proteins, allowing for combinatorial control of gene expression.

Examples of bZIP transcription factors include c-Jun, c-Fos, ATF (activating transcription factor), and CREB (cAMP response element-binding protein). Dysregulation of bZIP transcription factors has been implicated in various diseases, including cancer, inflammation, and neurodegenerative disorders.

Taurine is an organic compound that is widely distributed in animal tissues. It is a conditionally essential amino acid, meaning it can be synthesized by the human body under normal circumstances, but there may be increased requirements during certain periods such as infancy, infection, or illness. Taurine plays important roles in various physiological functions, including bile salt formation, membrane stabilization, neuromodulation, and antioxidation. It is particularly abundant in the brain, heart, retina, and skeletal muscles. In the human body, taurine is synthesized from the amino acids cysteine and methionine with the aid of vitamin B6.

Taurine can also be found in certain foods like meat, fish, and dairy products, as well as in energy drinks, where it is often added as a supplement for its potential performance-enhancing effects. However, there is ongoing debate about the safety and efficacy of taurine supplementation in healthy individuals.

Geographic atrophy is a medical term used to describe a specific pattern of degeneration of the retinal pigment epithelium (RPE) and the underlying choroidal tissue in the eye. This condition is often associated with age-related macular degeneration (AMD), which is a leading cause of vision loss in older adults.

In geographic atrophy, there are well-defined areas of RPE and choroidal atrophy that appear as pale, irregularly shaped patches in the central part of the retina known as the macula. These patches can grow larger over time and may lead to progressive vision loss. The exact cause of geographic atrophy is not fully understood, but it is thought to be related to oxidative stress, inflammation, and other age-related changes in the eye.

Currently, there are no effective treatments for geographic atrophy, although research is ongoing to find new ways to slow or halt its progression. Regular eye exams and monitoring by an ophthalmologist are important for people with AMD or geographic atrophy to help detect any changes in their vision and manage their condition effectively.

The brain is the central organ of the nervous system, responsible for receiving and processing sensory information, regulating vital functions, and controlling behavior, movement, and cognition. It is divided into several distinct regions, each with specific functions:

1. Cerebrum: The largest part of the brain, responsible for higher cognitive functions such as thinking, learning, memory, language, and perception. It is divided into two hemispheres, each controlling the opposite side of the body.
2. Cerebellum: Located at the back of the brain, it is responsible for coordinating muscle movements, maintaining balance, and fine-tuning motor skills.
3. Brainstem: Connects the cerebrum and cerebellum to the spinal cord, controlling vital functions such as breathing, heart rate, and blood pressure. It also serves as a relay center for sensory information and motor commands between the brain and the rest of the body.
4. Diencephalon: A region that includes the thalamus (a major sensory relay station) and hypothalamus (regulates hormones, temperature, hunger, thirst, and sleep).
5. Limbic system: A group of structures involved in emotional processing, memory formation, and motivation, including the hippocampus, amygdala, and cingulate gyrus.

The brain is composed of billions of interconnected neurons that communicate through electrical and chemical signals. It is protected by the skull and surrounded by three layers of membranes called meninges, as well as cerebrospinal fluid that provides cushioning and nutrients.

Calcium-binding proteins (CaBPs) are a diverse group of proteins that have the ability to bind calcium ions (Ca^2+^) with high affinity and specificity. They play crucial roles in various cellular processes, including signal transduction, muscle contraction, neurotransmitter release, and protection against oxidative stress.

The binding of calcium ions to these proteins induces conformational changes that can either activate or inhibit their functions. Some well-known CaBPs include calmodulin, troponin C, S100 proteins, and parvalbumins. These proteins are essential for maintaining calcium homeostasis within cells and for mediating the effects of calcium as a second messenger in various cellular signaling pathways.

Intervertebral disc displacement, also known as a slipped disc or herniated disc, is a medical condition where the inner, softer material (nucleus pulposus) of the intervertebral disc bulges or ruptures through its outer, tougher ring (annulus fibrosus). This can put pressure on nearby nerves and cause pain, numbness, tingling, or weakness in the affected area, often in the lower back or neck. The displacement may also lead to inflammation and irritation of the surrounding spinal structures, further exacerbating the symptoms. The condition is typically caused by age-related wear and tear (degenerative disc disease) or sudden trauma.

"Rosmarinus" is the genus name for rosemary, a woody herb that belongs to the mint family (Lamiaceae). The most common species is Rosmarinus officinalis. It is native to the Mediterranean region and is widely used in cooking, cosmetics, and traditional medicine. In a medical context, "Rosmarinus" would refer to the medicinal properties or uses of the rosemary plant.

Glial Cell Line-Derived Neurotrophic Factor (GDNF) is a protein that plays a crucial role in the survival, development, and function of certain neurons in the nervous system. It is a member of the transforming growth factor-β (TGF-β) superfamily and was initially identified for its ability to support the survival and differentiation of midbrain dopaminergic neurons, which are critical for movement control and motivation. GDNF also supports other types of neurons, including motor neurons and sensory neurons. It exerts its effects by binding to a receptor complex consisting of GFRα1 and RET tyrosine kinase receptors, activating intracellular signaling pathways that promote neuronal survival, growth, and synaptic plasticity. GDNF has been investigated as a potential therapeutic agent for various neurodegenerative disorders, including Parkinson's disease and amyotrophic lateral sclerosis (ALS).

... may refer to: Retinopathy, one of several eye diseases or eye disorders in humans Retinal degeneration ( ... in humans This disambiguation page lists articles associated with the title Retinal degeneration. If an internal link led you ... rhodopsin mutation) Progressive retinal atrophy, an eye disease in dogs List of systemic diseases with ocular manifestations, ...
"Orphanet: Infantile cerebellar retinal degeneration". "Infantile Cerebellar-Retinal Degeneration , Hereditary Ocular Diseases ... Infantile cerebellar retinal degeneration is a rare hereditary neurological disorder which primarily affects the eyes and the ... "Infantile cerebellar retinal degeneration - About the Disease - Genetic and Rare Diseases Information Center". rarediseases. ... "Infantile Cerebellar-Retinal Degeneration (ICRD)". www.malacards.org. Retrieved 2022-05-04. "OMIM Entry - # 614559 - INFANTILE ...
"A Novel Form of Transducin-Dependent Retinal Degeneration: Accelerated Retinal Degeneration in the Absence of Rod Transducin". ... "A Novel Form of Transducin-Dependent Retinal Degeneration: Accelerated Retinal Degeneration in the Absence of Rod Transducin". ... "A Novel Form of Transducin-Dependent Retinal Degeneration: Accelerated Retinal Degeneration in the Absence of Rod Transducin". ... It suggests a mechanism for retinal degeneration caused by non-retinal-specific genes, such as PRPF31 mutations. For example, a ...
The retinal degeneration appears to be related to apoptosis of these cells. SARDS must be distinguished from other causes of ... Sudden acquired retinal degeneration syndrome (SARDS) is a disease in dogs causing sudden blindness. It can occur in any breed ... "Sudden Acquired Retinal Degeneration (SARD)". The Merck Veterinary Manual. 2006. Retrieved 2007-03-11. Ofri, Ron (2006). " ... Carter RT, Bentley E, Oliver JW, et al.: Elevations in adrenal sex hormones in canine sudden acquired retinal degeneration ...
... retinal degeneration, slow; RDS). It is essential for disk morphogenesis, and may also function as an adhesion molecule ... "Entrez Gene: ROM1 retinal outer segment membrane protein 1". Wang Q, Chen Q, Zhao K, et al. (2001). "Update on the molecular ... 1993). "Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13". Nat. Genet. 1 (4): 246-250. ... Implications for photoreceptor outer segment morphogenesis and degeneration". J. Biol. Chem. 275 (8): 5370-5378. doi:10.1074/ ...
Retinal Degenerations. Advances in Experimental Medicine and Biology. Vol. 533. pp. 1-11. doi:10.1007/978-1-4615-0067-4_1. ISBN ... Initially named "ORP1" for its response to in vivo retinal oxygen levels (designated ORP1 for 'oxygen-regulated protein-1'), ... This protein and another retinal-specific protein, RP1L1, play essential and synergistic roles in affecting photosensitivity ... Retinal Degenerative Diseases. Advances in Experimental Medicine and Biology. Vol. 572. pp. 3-8. doi:10.1007/0-387-32442-9_1. ...
... retinal degeneration and diabetic retinopathy. Arthritis and associated rheumatological degenerative diseases are the focus of ... A Clinical Report on Eight Cases of 'heterogenous System Degeneration'". Transactions of the American Neurological Association ...
... retinal detachment, and macular degeneration. The Donald K. Johnson Eye Centre Research Institute is a joint venture between ... Retinal degeneration and diabetic retinopathy; Corneal disease The Centre has the largest ophthalmology residency-training ... It has the largest Retinal Surgery Unit in North America, one of the largest Glaucoma Units in the Canada, and performs the ... It has the largest ophthalmology subspecialty program in Canada, including fellowship training in glaucoma, retinal, and ...
Chang B, Hawes NL, Hurd RE, Davisson MT, Nusinowitz S, Heckenlively JR (Feb 2002). "Retinal degeneration mutants in the mouse ... Mutations in this subunit are responsible for retinal degeneration such as retinitis pigmentosa or congenital stationary night ... The possibility of altering the course of retinal degeneration through subretinal injection of recombinant replication ... in exon 13 of the Pde6b gene is the character of another animal model of recessive retinal degeneration. In rd1 animals, the ...
Retinal degeneration cannot be ameliorated with glasses. The type of therapy needed for each individual varies, as not every ... Glasses are beneficial to those who have severe nearsightedness, whereas individuals with retinal degeneration need training ... nystagmus and iris/retinal coloboma.[citation needed] General appearance is obesity with thin/elongated arms and legs. ...
"Feline central retinal degeneration". Invest Ophthalmol Vis Sci. 13: 608-616. Smith, Marty (Fall 2017). "Progressive Retinal ... Inadequate Vitamin E can affect cells in the eye, making it one of the causes of retinal degeneration. It is essential to ... Vitamin deficiencies in A and E can also lead to retinal degeneration in cats. Since photo-receptors develop early in life, it ... Lenox . 1(1), 1-5., C. (Fall 2017). "Metabolic bone disease ad central retinal degeneration in a kitten due to nutritional ...
Blanks, Janet C.; Hinton, David R.; Sadun, Alfredo A.; Miller, Carol A. (November 6, 1989). "Retinal ganglion cell degeneration ... and found out that degeneration in the retinal ganglion cells (RGCs) is characterized by a vacuolated, 'frothy' appearance of ... Progress in retinal and eye research, 23(1), 53-89. Pan, B. X., Ross-Cisneros, F. N., Carelli, V., Rue, K. S., Salomao, S. R., ... He was the first to describe a human retinal projection to the hypothalamus that subserves the visual entrainment of the ...
Some individuals may develop retinal degeneration and blindness. If left untreated, the condition may lead to death. The ... Approximately 30%-79% of people with the disease display symptoms of abnormality of the retinal pigmentation, ataxia, muscular ... They can include poor muscle coordination, difficulty with balance and movement (ataxia), and progressive degeneration of the ... Clinical trial number NCT02435940 for "Inherited Retinal Degenerative Disease Registry" at ClinicalTrials.gov ...
... retinal degeneration, and hearing loss. In mice, mutations in tubby proteins are known to affect life span and fat storage as ... and retinal degeneration. Tubby proteins are classified as α+β proteins and have a 12-beta stranded barrel surrounding a ... "Cochlear and retinal degeneration in the tubby mouse". NeuroReport. 6 (6): 845-9. doi:10.1097/00001756-199504190-00005. PMID ...
"Drosophila melanogaster White Mutant w1118 Undergo Retinal Degeneration". Frontiers in Neuroscience. 11: 732. doi:10.3389/fnins ...
Yang J, Nong E, Tsang SH (2013). "Induced pluripotent stem cells and retinal degeneration treatment". Expert Rev. Ophthalmol. 8 ... Its degeneration ultimately results in complete loss of joint function in the late stages of osteoarthritis. As an avascular ... One example is the transformation of iris cells to lens cells in the process of maturation and transformation of retinal ... There are several articles describing methods for producing retinal cells from iPSCs and how to use them for cell therapy. ...
"A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration" (PDF ... 1991). "The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA". Genomics. 10 (3): 733 ... Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically ... 1991). "Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse". Proc ...
In 1870, he began noticing signs of decreasing vision which is attested to retinal degeneration. The blurriness of his later ... Karcioglu, Zeynel (7 March 2007). "Did Edgar Degas have an Inherited Retinal Degeneration?". Ophthalmic Genetics. 28 (2): 51-55 ... Georgia O'Keeffe was an American artist who experienced symptoms of age-related macular degeneration in 1964. In her later ... Marmor, Michael F. (2006-12-01). "Ophthalmology and Art: Simulation of Monet's Cataracts and Degas' Retinal Disease". Archives ...
This ultimately leads to retinal degeneration and apoptosis. Recoverin is the most common antigen associated with CAR. The ... Major signs include circulating anti-retinal antibodies along with loss of the outer retinal layer including the ellipsoid ... These antigens trigger an autoimmune response within the host to form antibodies that cross-react with the retinal antigen. ... CAR results from the interaction between retinal antigen expression in cancer tissues and their systemic immune response. ...
Anderson, Kenneth V; Coyle, Frances P; O'Stben, W. Keith (1 May 1972). "Retinal degeneration produced by low-intensity colored ... namely on circadian rhythm and retinal health (blue-light hazard), which can lead to age-related macular degeneration. ... Ham, William T.; Mueller, Harold A.; Sliney, David H. (11 March 1976). "Retinal sensitivity to damage from short wavelength ... Although few studies have examined occupational causes of macular degeneration, they show that long-term sunlight exposure, ...
He is visually impaired due to retinal degeneration. Naficy lost most of his vision after climbing Mount Whitney on July 22, ...
"Feline central retinal degeneration". Invest Ophthalmol Vis Sci. 13: 608-616. Smith, Marty (Fall 2017). "Progressive Retinal ... Vitamin deficiencies in A and E can also lead to retinal degeneration in cats. Neutering and overfeeding have contributed to ... Lenox, C. (Fall 2017). "Metabolic bone disease ad central retinal degeneration in a kitten due to nutritional inadequacy of an ... Hayes, K. C.; Carey, Richard E.; Schmidt, Susan Y. (1975). "Retinal Degeneration Associated with Taurine Deficiency in the Cat ...
2011). "AAV Mediated GDNF Secretion From Retinal Glia Slows Down Retinal Degeneration in a Rat Model of Retinitis Pigmentosa". ... macular degeneration, and other retinal diseases, and the retinal pigment epithelium (RPE), which supports the photoreceptors ... Cepko, C. L. (2012). "Emerging Gene Therapies for Retinal Degenerations". Journal of Neuroscience. 32 (19): 6415-6420. doi: ... for human retinal degeneration: Phase I trial of CNTF delivered by encapsulated cell intraocular implants". Proceedings of the ...
2018). "rosophila melanogaster White Mutant w1118 Undergo Retinal Degeneration". Frontiers in Neuroscience. 11: 732. doi: ... Gühmann M, Porter ML, Bok MJ (August 2022). "The Gluopsins: Opsins without the Retinal Binding Lysine". Cells. 11 (15): 2441. ... muscle degeneration, reduced climbing ability, altered behavior and reduced locomotor activity. Females become receptive to ...
Hayes, K.C.; Carey, R.E.; Schmidt, S.Y. (1975). "Retinal Degeneration Associated with Taurine Deficiency in the Cat". Science. ... have been shown to develop retinal degeneration due to a deficiency in taurine, an essential amino acid for cats that is ...
Ocular symptoms may include retinal degeneration, ophthalmoplegia, and ptosis. Those with MNGIE are often thin and experience ...
"The Retinal Vasculature in Macular Degeneration." Archives of Ophthalmology. 1966;75(3):326-333. Abraham L. Kornzweig, MD; Ira ... "Occlusive Disease of Retinal Vasculature." Archives of Ophthalmology. 1964;71(4):542-551. Morris Feldstein, M.D.; Abraham L. ...
Davidson M, Geoly F, Gilger B, McLellan G, Whitley W (1998). "Retinal degeneration associated with vitamin E deficiency in ... Giuliano E, van der Woerdt A (1999). "Feline retinal degeneration: clinical experience and new findings (1994-1997)". J Am Anim ... Central progressive retinal atrophy (CPRA) is a different disease from PRA involving the retinal pigment epithelium (RPE), and ... CPRA is also known as retinal pigment epithelial dystrophy (RPED). The cause of this condition is the loss of the retinal ...
In: Retinal Degenerations: Biology, Diagnostics, and Therapeutics. Tombran-Tink J, Barnstable CJ (eds.), The Humana Press, Inc ...
Williams (2004). Photoreceptor Cell Biology and Inherited Retinal Degenerations. World Scientific. pp. 89-145. (CS1 maint: ... Examples of photoreceptor pigments include: retinal (in rhodopsin) flavin (in cryptochrome) bilin (in phytochrome) In medical ... the photoreceptor proteins in the retinal rods and cones of vertebrates that are responsible for visual perception, but also ...
... retinal degeneration, and nightblindness. If they remain un-treated, they can end up in severe vision impairment. Goldmann- ... and retinal degeneration. Occasional findings include optic nerve atrophy. This condition has many complications associated ... It is a type of progressive vitreotapetoretinal degeneration. This condition is more common among Marrano Jews living in ... a disorder of retinal cell fate". Nature Genetics. 24 (2): 127-131. doi:10.1038/72777. ISSN 1061-4036. PMID 10655056. S2CID ...
Affected individuals are typically profoundly deaf at birth and then undergo progressive retinal degeneration. Model organisms ... Retinal Degenerations. Advances in Experimental Medicine and Biology. Vol. 533. pp. 133-42. CiteSeerX 10.1.1.501.2021. doi: ... el-Amraoui A, Sahly I, Picaud S, Sahel J, Abitbol M, Petit C (August 1996). "Human Usher 1B/mouse shaker-1: the retinal ...
... in the encoded C1QTNF5 protein causes the Late-onset retinal degeneration disease(L-ORD). Retinal degeneration is a genetic ... The single mutation S163R is found in the gC1q domain which is the main reason for Late-onset retinal degeneration disease(L- ... A mutation in the C1QTNF5 gene causes late-onset retinal degeneration. More specifically, a single missense mutation (S163R) ... Lando, Leonardo; Borooah, Shyamanga (2022-09-30). "Late-Onset Retinal Degeneration: Clinical Perspectives". Clinical ...
Boucher, B. J.; Gibberd, F. B. (1969). "Familial ataxia, hypogonadism and retinal degeneration". Acta Neurologica Scandinavica ...
Ofri, Ron; Barishak, Robert Y.; Eshkar, Gabi; Aizenberg, Itzhak (March 1996). "Feline Central Retinal Degeneration in Captive ...
Seabra MC, Brown MS, Goldstein JL (1993). "Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase ... Syed N, Smith JE, John SK, Seabra MC, Aguirre GD, Milam AH (2001). "Evaluation of retinal photoreceptors and pigment epithelium ... retinal pigment epithelium and retina. Rab (G-protein) GRCh38: Ensembl release 89: ENSG00000188419 - Ensembl, May 2017 GRCm38: ...
Retinal degeneration may refer to: Retinopathy, one of several eye diseases or eye disorders in humans Retinal degeneration ( ... in humans This disambiguation page lists articles associated with the title Retinal degeneration. If an internal link led you ... rhodopsin mutation) Progressive retinal atrophy, an eye disease in dogs List of systemic diseases with ocular manifestations, ...
Retinal artery occlusion (Medical Encyclopedia) Also in Spanish * Retinal vein occlusion (Medical Encyclopedia) Also in Spanish ... Stargardt macular degeneration: MedlinePlus Genetics (National Library of Medicine) * TRNT1 deficiency: MedlinePlus Genetics ( ... Retinal disorders affect this vital tissue. They can affect your vision, and some can be serious enough to cause blindness. ... Retinal arterial macroaneurysm with supravalvular pulmonic stenosis: MedlinePlus Genetics (National Library of Medicine) ...
... cells derived from human embryonic stem cells can be safely transplanted into the eyes of patients with retinal degeneration, ... "We are seeing whether its financially viable to use iPS in a personalized medicine approach [to treat retinal degeneration]. ... She also questioned whether any form of RPE cell transplantation could really halt retinal degeneration. You basically treat a ... Inherited Retinal Diseases: Early Signs and Advances in Treatment * 2001/viewarticle/could-retinal-changes-be-harbinger- ...
Analysis of retinal organoids showed that this new transcript expression increased with organoid differentiation. V4, a novel ... derived retinal organoids, and a dynein motility assay). Four novel DYNC2H1 variants (V1, g.103327020_103327021dup; V2, g. ... Determining the role of DYNC2H1 variants in nonsyndromic inherited retinal disease (IRD). Genome and exome sequencing were ... The retinal microexon is boxed in red. (c) Retinal organoid differentiation was confirmed by RT-PCR for markers of retinal ...
... Mol Neurobiol. 2015 Aug;52(1): ... We propose that early disruption of rhodopsin protein homeostasis in photoreceptors could contribute to retinal degeneration. ... Retinal Degeneration / pathology* * Retinal Photoreceptor Cell Inner Segment / metabolism * Retinal Photoreceptor Cell Inner ...
We tested the possibility of altering the course of retinal degeneration in the rd mouse through subretinal injectio … ... can cause a recessively inherited retinal degeneration in several species, including mice, dogs and humans. ... Photoreceptor cell rescue in retinal degeneration (rd) mice by in vivo gene therapy Nat Med. 1996 Jun;2(6):649-54. doi: 10.1038 ... We tested the possibility of altering the course of retinal degeneration in the rd mouse through subretinal injection of a ...
New Webvision Chapter: Retinal Degeneration, Remodeling and Plasticity. We have a new Webvision chapter on Retinal Degeneration ... TagsBryan Jones, Bryan William Jones, neural degeneration, Rebecca L. Pfeiffer, retinal degeneration, retinal plasticity, ... Part XII: Investigations of Human Retinal Disease *Retinal Degeneration, Remodeling and Plasticity by Bryan William Jones, ... Part VI: Retinal Neurogenesis: Early stages in the development of neurons and pathways *Formation of Early Retinal Circuits in ...
Mark A Potential Role of Cyclic Dependent Kinase 1 (CDK1) in Late Stage of Retinal Degeneration Zhou, Jiaming LU and Ekström, ... Mark Pyruvate Kinase 2, an Energy Metabolism Related Enzyme, May Have a Neuroprotective Function in Retinal Degeneration Zhou, ... Mark Drug delivery to retinal photoreceptors Himawan, Erico ; Ekström, Per LU ; Buzgo, Matej ; Gaillard, Pieter ; Stefánsson, ... Mark Cellular mechanisms of hereditary photoreceptor degeneration - Focus on cGMP Power, Michael ; Das, Soumyaparna ; Schütze, ...
... retinal degeneration, age-related macular degeneration, and inherited retinal degeneration. Results: Subsequent studies ... Light-induced retinal degeneration. The role of ER stress in light-induced retinal degeneration has recently been verified. In ... Inherited retinal degeneration. Involvement of the UPR in the mechanism of inherited retinal degeneration has been studied in ... retinal degeneration. Therefore, at this point it is not clear whether this increase directly accelerated retinal degeneration ...
Dark rearing significantly rescues retinal degeneration induced by hN2S/N15S rhodopsin. Retinal degenerations caused by both ... rhodopsin exhibited retinal degeneration as seen by loss or shortening of ROS. rpe, Retinal pigment epithelium; ros, rod outer ... 2000) A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration. Hum Mol Genet 9:27-34. ... Retinal degeneration was not observed regardless of which transgene was expressed; bT4R and bT17M expressing retinas were ...
Retinal lattice degeneration is a condition associated with retinal breaks in which the retinal tissue breaks down or thins in ... This separation is known as retinal detachment. Because retinal breaks and lattice degeneration are associated with retinal ... and retinal lattice degeneration (thinning and atrophy of retinal tissue) can prevent retinal detachment, a serious vision- ... Interventions for asymptomatic retinal breaks and lattice degeneration for preventing retinal detachment. Review question We ...
The sensitivity losses in patients with macular degeneration have also been attributed to a loss of photoreceptors. To test ... on normal subjects in response to varying stimulus luminances and retinal loci. These stimulus manipulations did not duplicate ...
These researchers have shown that isolated retinal stem cells can generate cone photoreceptors and retinal pigment epithelial ... When these retinal stem cells are transplanted into mouse eyes, they are able to integrate into the host retina and develop ... They will also test the ability of transplanted adult retinal stem cells to restore vision in mice that lack functioning cone ... Stem cell therapy offers the promise of an inexhaustible supply of retinal cells that can be used for transplant into eyes ...
... including retinal degeneration. Previously, we reported on progressive retinal degeneration in a spontaneous obese rat (WNIN/Ob ... on retinal degeneration using the WNIN/GR-Ob rat model. Methods: The retinal morphology and ultrastructure of WNIN/GR-Ob and ... The severity of retinal degeneration was greater in WNIN/GR-Ob rats compared to WNIN/Ob, suggesting a possible role for IGT in ... further supporting cellular stress/damage and retinal degeneration. The retinal transcriptome analysis indicated altered ...
Coupling architecture of the retinal Aii/ON cone bipolar cell network and alteration in degeneration. ... Spontaneous network spontaneous hyperactivity observed during retinal degeneration contributes to visual impairment and ... a pathoconnectome from a rabbit retinal degeneration model. ... Here, we used connectomics-based mapping of retinal circuitry ... with substantial implications for therapeutic interventions for blinding diseases that depend upon the surviving retinal ...
Novel therapeutics to reduce the progression of retinal degenerations. In recent years, ophthalmic drugs have enjoyed a ... We are actively engaging with commercial partners to help develop strategies to slow the progression of retinal degenerations, ... Study » Student projects » Novel therapeutics to reduce the progression of retinal degenerations ...
OCT angiography of the retinal microvasculature and choriocapillaris in highly myopic eyes with myopic macular degeneration ... Results Retinal PD decreased with increasing severity of MMD. Multivariable analysis showed that after adjustment of age and ... PLEX Elite 9000 SS-OCTA was performed to obtain perfusion densities (PD) of the superficial and deep retinal capillary plexus, ... In eyes with early-stage PDCA, lower retinal PD and more extensive CC signal voids are predominantly associated with increasing ...
Protection against light-induced retinal degeneration in Sprague-Dawley rat assessed as suppression of light-induced retinal ...
Inner Retinal Layer Thickness Alterations in Early Age Related Macular Degeneration in Eyes with Subretinal Drusenoid Deposits ... Inner Retinal Layer Thickness Alterations in Early Age Related Macular Degeneration in Eyes with Subretinal Drusenoid Deposits ... Inner retinal layer macular thickness measurements were obtained for central circles with 1, 3, and 5 mm diameter. Continuous ... There was significant reduction in the inner retinal layer thickness in the central 1mm area and in the superior 3 mm area in ...
... incurable retinal disorders. Keywords: retinal degenerations, dog, progressve retinal atrophy, retinitis pigmentosa, canine ... Diseases of the PRA group serve as good model systems for both basic and clinical research into inherited retinal degenerations ... Here, we briefly review the morphology of the canine retina and methods of basic research describing retinal degenerations in ... For ophthalmologists, the most relevant inherited retinal disease group in dogs is progressive retinal atrophy (PRA), since it ...
Activation of Rod Input in a Model of Retinal Degeneration Reverses Retinal Remodeling and Induces Formation of Functional ... Activation of Rod Input in a Model of Retinal Degeneration Reverses Retinal Remodeling and Induces Formation of Functional ... Retinal Degeneration. Tamoxifen. Electroretinography. Photic Stimulation. Signal Transduction. Synaptic Transmission. Neuronal ... Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of ...
Axon degeneration, Retinal degeneration, Sterile alpha and Toll/interleukin-1 receptor motif-containing 1 (SARM1), NADase, NAD+ ... SARM1 Ablation Is Protective and Preserves Spatial Vision in an In Vivo Mouse Model of Retinal Ganglion Cell Degeneration. ... SARM1 Ablation Is Protective and Preserves Spatial Vision in an In Vivo Mouse Model of Retinal Ganglion Cell Degeneration. ... Mitochondrial dysfunction and axon degeneration are common features of many neurodegenerative conditions including retinal ...
Mutations in RS1 gene lead to macular degeneration in young males, characterized by splitting of the inner retinal cell layers ... two RS1 single-rings found on the surfaces of two opposing retinal layers bind to each other to hold the two retinal layers ... Retinoschisin (RS1) is a retinal cell surface protein that is predicted to be an adhesion complex preserving the structure and ... of human retinal protein retinoschisin provides insights into its molecular mechanisms underlying juvenile macular degeneration ...
Rate of Progression in EYS Related Retinal Degeneration (Pro-EYS). Details. This natural history study of patients with EYS ... History or evidence of active treatment for retinitis pigmentosa that could affect the progression of retinal degeneration, ... Characterize the natural history of retinal degeneration associated with biallelic pathogenic mutations in the EYS gene over 4 ... Rate of Progression in EYS Related Retinal Degeneration a study on Retinitis Pigmentosa ...
Retinal changes in an ATP-induced model of retinal degeneration. Front Neuroanat. 2016; 10: 46. [CrossRef] [PubMed] ... Retinal remodeling during retinal degeneration. Exp Eye Res. 2005; 81(2): 123-137. [CrossRef] [PubMed] ... Spectral Domain Optical Coherence Tomography in Mouse Models of Retinal Degeneration. Elimination of a Retinal Riboflavin ... Stimulation of a suprachoroidal retinal prosthesis drives cortical responses in a feline model of retinal degeneration. Invest ...
Tag: retinal degeneration. Ocutamin Reviews: Vision is Restored as They Say?. Authored by David Freston updated May 22, 2022. ... retinal degeneration, retinal pigment epithelium, vision, vitamin E, Zeaxanthin. ...
Potential Implications for Age-Related Macular Degeneration. / Bennis, A.; Gorgels, T.G.M.F.; ten Brink, J.B. et al. In: PLoS ... Background The human retinal pigment epithelium (RPE) plays an important role in the pathogenesis of age related macular ... N2 - Background The human retinal pigment epithelium (RPE) plays an important role in the pathogenesis of age related macular ... AB - Background The human retinal pigment epithelium (RPE) plays an important role in the pathogenesis of age related macular ...
... macular degeneration, macular edema, and retinal vein occlusion. These diseases may cause loss of vision and should be treated ... Intravitreal injections are used to treat retinal diseases such as diabetic retinopathy, ... Intravitreal injections are commonly used to treat retinal diseases such as diabetic retinopathy, macular degeneration, macular ... Other less common risks include infection, bleeding in the eye, retinal tears or detachment, and cataract formation. ...
Home » Areas of Expertise » Macular Degeneration. Macular Degeneration. Macular degeneration is the most common reason for ... Macular degeneration is just another reason why it is so important to monitor your vision on a regular basis with an amsler ... Can I Prevent Macular Degeneration? Keeping things like your hypertension, cholesterol levels and no tobacco use also plays a ... What Are The Most Common Treatments for Macular Degeneration? Outside of keeping a healthy overall lifestyle, other treatment ...
Regularly scheduled eye exams are the best way to catch and manage retinal conditions before significant vision loss occurs. ... Retinal Detachment. Retinal detachment is a condition that causes the retina to lift off of the wall of the eye. When the ... Common Retinal Diseases. Retinal diseases can cause severe vision loss, so it is important to get your eyes examined regularly ... Macular Degeneration. Macular degeneration is a condition that causes the macula (the central portion of the retina) to ...
  • Using a novel patient-specific stem cell-based therapy, researchers at the National Eye Institute (NEI) prevented blindness in animal models of geographic atrophy, the advanced "dry" form of age-related macular degeneration (AMD), which is a leading cause of vision loss among people age 65 and older. (nih.gov)
  • Age-related macular degeneration (AMD) is the most common cause of irreversible blindness. (nih.gov)
  • Age-related Macular Degeneration (both "wet" and "dry" forms) and Diabetic Retinopathy are the most common causes of vision loss in the U.S., accounting for approximately 18 million sufferers. (databasefootball.com)
  • Specifically, intravitreal injection of an antibody against Vascular Endothelial Growth Factor (VEGF) has revolutionized the treatment of one of the most common causes of blindness in the elderly, namely, "wet" Age-related Macular Degeneration (AMD). (databasefootball.com)
  • Age-related macular degeneration (AMD) is a leading cause of irreversible central vision loss in the elderly. (nih.gov)
  • Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma. (arizona.edu)
  • The Macular Degeneration Association, Inc. is a registered 501(c)(3) non-profit corporation. (macularhope.org)
  • The degeneration of the Retinal Pigment Epithelium (RPE) is associated with various types of RD such as Stargardt's disease, retinitis pigmentosa, choroideremia, Late-Onset Retinal Degeneration (L-ORD), and Age-related Macular Degeneration (AMD). (nih.gov)
  • Macular degeneration is a deterioration or breakdown of the macula. (foresthillsretina.com)
  • Macular degeneration is the leading cause of severe vision loss in the United States in people 65 years or older. (foresthillsretina.com)
  • Many older people develop macular degeneration as part of the body's natural aging process. (foresthillsretina.com)
  • The most common form of macular degeneration is age-related macular degeneration (AMD). (foresthillsretina.com)
  • The RD Fund (Retinal Degeneration Fund), the Foundation Fighting Blindness' venture arm, announces an equity investment in Perceive rd(Perceive Bio), a biotechnology company developing novel treatments, leading with a gene therapy candidate for dry age-related macular degeneration (dry AMD), including the advanced form, geogra (GA). (siliconvalleyjournals.com)
  • It was established in 2018 to serve the Foundation's mission to rapidly drive research toward preventions, treatments, and cures for the entire spectrum of blinding retinal diseases including: retinitis pigmentosa, macular degeneration, and Usher syndrome. (siliconvalleyjournals.com)
  • The Foundation has raised more than $891 million toward its mission of accelerating research for preventing, treating, and curing blindness caused by the entire spectrum of blinding retinal diseases including: retinitis pigmentosa, macular degeneration, and Usher syndrome. (siliconvalleyjournals.com)
  • Age-related macular degeneration, diabetic retinopathy, and glaucoma are leading causes of visual impairment. (hindawi.com)
  • Dr. Niteen Dedhia and his team provide retinal detachment and macular degeneration treatment in Mumbai with comprehensive treatment and modern facilities. (meghalayamagazine.in)
  • Besides being an expert in retinal detachment treatment, Dr. Niteen Dedhia is also experienced in macular degeneration treatment in Mumbai . (meghalayamagazine.in)
  • Macular degeneration is a condition that causes the central portion of the retina, known as the macula, to deteriorate. (meghalayamagazine.in)
  • As a result, people with macular degeneration can struggle to see objects clearly when they are directly in front of them or in their central vision. (meghalayamagazine.in)
  • My mother had macular degeneration and was losing her vision due to the condition. (meghalayamagazine.in)
  • Dr. Niteen Dedhia is a board-certified ophthalmologist and eye specialist In Mumbai with expertise in diagnosing and treating retinal detachment, macular degeneration and other vision disorders. (meghalayamagazine.in)
  • Dr. Dedhia is a fellowship-trained retina specialist who has extensive knowledge of all aspects of eye disease, from cataracts to glaucoma, from diabetic retinopathy to Age-related Macular Degeneration (AMD), from retinal detachments to vitreous hemorrhage. (meghalayamagazine.in)
  • Xiaodong Sun Introduction: Neovascular age - related macular degeneration (NVAMD) is a leading cause of severe vision impairment in the elderly. (karger.com)
  • Age - related macular degeneration (AMD) has become a major cause of visual impairment worldwide. (karger.com)
  • Age - related macular degeneration (AMD) is the leading cause of blindness in the western world. (karger.com)
  • Jie Jin Wang Background: The aetiology of age - related macular degeneration (AMD) and cognitive impairment is poorly understood. (karger.com)
  • We investigated the impact of age-related macular degeneration (AMD) on visual acuity and the visual white matter. (elsevierpure.com)
  • Geographic atrophy (GA) is one of two kinds of advanced age-related macular degeneration (AMD). (webmd.com)
  • Doctors see it most often in people 60 and older who have a family member with macular degeneration or another genetic eye condition. (webmd.com)
  • You may read slower than folks with less advanced forms of age-related macular degeneration. (webmd.com)
  • 6 diopters) may be associated with glaucoma, cataract, retinal degeneration and myopic macular degeneration [1]. (who.int)
  • Another approximately 200,000 individuals are born with genetic predispositions to degeneration of the retina and progressive loss of vision throughout life. (databasefootball.com)
  • The unprecedented clinical success of VEGF antibody to inhibit the growth of "leaky" blood vessels (a process known as neovascularization) into the retina and their concomitant destruction of retinal tissue has been achieved despite a lack of knowledge regarding the primary cause of this devastating disease. (databasefootball.com)
  • Pigment epithelium-derived factor (PEDF) is a member of the serine protease inhibitor superfamily produced by retinal pigment epithelial cells in the developing and adult retina. (nih.gov)
  • This is a rare syndrome consisting of a pigmentary degeneration of the retina in association with nanophthalmos. (arizona.edu)
  • Blood from the retina is drained from smaller branches of retinal veins into the larger central retinal vein and away from the eye. (foresthillsretina.com)
  • Floaters may be a symptom of a tear in the retina, which is a serious problem because it may lead to retinal detachment. (foresthillsretina.com)
  • The retinal specialists at Retina Associates of Utah are skilled and experienced in the treatment of multiple health concerns affecting the retina, macula, vitreous, and optic nerve. (retinautah.com)
  • Lattice degeneration targets the peripheral edges of the retina. (retinautah.com)
  • No prevention or cure exists, and treatment is usually unnecessary, but lattice degeneration can make the retina more susceptible to tears, holes, and detachment. (retinautah.com)
  • Accumulation of tau and pTau were observed in both the central and peripheral retinal ganglion cell (RGC), inner plexiform and inner nuclear layers of the neurosensory retina of rTg(tauP301L)4510 mice. (biomedcentral.com)
  • y sus efectos en la retina y la visión. (ucm.es)
  • Microglia in mouse retina contralateral to experimental glaucoma exhibit multiple signs of activation in all retinal layers. (ucm.es)
  • Retinal Detachment is a condition that happens when the retina detaches from its normal position at the back of the eye, exposing it to underlying blood vessels, scar tissue, and other potentially harmful elements. (meghalayamagazine.in)
  • Proteomic profiling of the retinal dysplasia and degeneration chick retina. (omia.org)
  • Retinal detachment is separation of the neurosensory retina from the underlying retinal pigment epithelium. (msdmanuals.com)
  • Clinical copper metabolism parameters in patients with retinitis pigmentosa and other tapeto-retinal degenerations. (bmj.com)
  • Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa. (omia.org)
  • Retinal diseases that result in damage to photoreceptors and subsequent vision loss are some of the most heterogeneous genetic disorders known, involving over 60 different genes and more than 200 different mutations. (databasefootball.com)
  • Despite the considerable heterogeneity observed in the spectrum of retinal disease, it is known that loss of photoreceptors due to cell death is the ultimate cause of vision loss. (databasefootball.com)
  • From a variety of animal models of environmentally- and genetically-induced retinal degeneration, we know that loss of photoreceptors occurs due to an integrated network of cell death pathways, including apoptosis, necroptosis, and autophagy. (databasefootball.com)
  • Leber congenital amaurosis (LCA) associated with retinal pigment epithelium-specific protein 65 kDa (RPE65) mutations is a severe hereditary blindness resulting from both dysfunction and degeneration of photoreceptors. (upenn.edu)
  • In untreated RPE65-LCA patients, there was dysfunction and degeneration of photoreceptors, even at the earliest ages. (upenn.edu)
  • Dogs treated during the earlier dysfunction-only stage showed improved visual function and dramatic protection of treated photoreceptors from degeneration when measured 5-11 y later. (upenn.edu)
  • We hypothesized that the mutant rhodopsin in the endoplasmic reticulum (ER) generates the unfolded protein response (UPR) in retinal photoreceptors. (arvojournals.org)
  • One purpose of this study was to investigate whether ER stress is induced in transgenic mutant rhodopsin S334ter-3 rats, which, in turn, would induce the UPR and result in degeneration of photoreceptors. (arvojournals.org)
  • The second purpose of this study was to investigate whether these compounds can be used as therapeutic agents to suppress death of retinal photoreceptors in these rats. (arvojournals.org)
  • Therefore, it is essential to maintain the health and integrity of retinal photoreceptors. (nih.gov)
  • We further demonstrated that a similar proteasomal overload takes place in photoreceptors of other mutant mice where retinal degeneration has been ascribed to protein mistargeting or misfolding, but not in mice whose photoreceptor degenerate as a result of abnormal phototransduction. (duke.edu)
  • Degeneration of retinal photoreceptors is frequently observed in diverse ciliopathy disorders, and photoreceptor cilium gates the molecular trafficking between the inner and the outer segment (OS). (bvsalud.org)
  • Loss of Bmi1 causes anomalies in retinal development and degeneration of cone photoreceptors. (ulaval.ca)
  • Of these, rod and cone photoreceptors represent the functional unit of light detection and phototransduction and are frequently affected in retinal degenerative diseases. (ulaval.ca)
  • We show here that Bmi1 is required to prevent post natal degeneration of cone photoreceptors and bipolar neurons and that inactivation of Chk2 or p53 could improve but not overcome cone degeneration in Bmi1(-/-) mice. (ulaval.ca)
  • An early diagnosis of a retinal detachment is important because the rate of successful retinal reattachment is higher and the visual results are better when repaired early, especially before the rhegmatogenous retinal detachment (RRD) involves the macula. (guidelinecentral.com)
  • Lattice degeneration is present in 6% to 8% of the population and increases the risk of retinal detachment. (guidelinecentral.com)
  • Identify patients at risk of developing a rhegmatogenous retinal detachment. (guidelinecentral.com)
  • Manage patients at high risk of developing retinal detachment. (guidelinecentral.com)
  • This new growth can cause vitreous hemorrhage, scarring or retinal detachment, which can lead to vision loss. (foresthillsretina.com)
  • Lattice degeneration has no symptoms, but rarely, it develops into more serious retinal tears or detachment, requiring immediate medical attention. (retinautah.com)
  • About 20-30% of patients with a rhegmatogenous retinal detachment have lattice degeneration. (retinautah.com)
  • However, the vast majority of patients with lattice degeneration do not develop retinal detachment. (retinautah.com)
  • It can be serious, leading to vision problems and retinal detachment. (retinautah.com)
  • Retinoschisis can also be mistaken for retinal detachment. (retinautah.com)
  • Among potential juvenile retinoschisis complications are vitreous hemorrhaging (heavy bleeding), retinal detachment, and total blindness. (retinautah.com)
  • He is an expert in the specialized field of retinal detachment treatment in Mumbai . (meghalayamagazine.in)
  • Treatment for retinal detachment can vary depending on the severity and cause. (meghalayamagazine.in)
  • The most common cause is a retinal break (a tear or, less commonly, a hole-rhegmatogenous detachment). (msdmanuals.com)
  • ultrasonography may help determine the presence and type of retinal detachment if it cannot be seen with funduscopy. (msdmanuals.com)
  • Immediate treatment is imperative if rhegmatogenous retinal detachment is acute and threatens central vision. (msdmanuals.com)
  • Treatment of rhegmatogenous detachment may include sealing retinal breaks (by laser or cryotherapy), supporting the breaks with scleral buckling, pneumatic retinopexy, and/or vitrectomy. (msdmanuals.com)
  • There are 3 types of detachment: rhegmatogenous (which involves a retinal break), traction, and serous (exudative) detachment. (msdmanuals.com)
  • Traction retinal detachment can be caused by vitreoretinal traction due to preretinal fibrous membranes as may occur in proliferative diabetic or sickle cell retinopathy. (msdmanuals.com)
  • Retinal detachment is painless. (msdmanuals.com)
  • Indirect ophthalmoscopy shows the retinal detachment and can differentiate the subtypes of retinal detachment in nearly all cases. (msdmanuals.com)
  • Retinal degeneration may refer to: Retinopathy, one of several eye diseases or eye disorders in humans Retinal degeneration (rhodopsin mutation) Progressive retinal atrophy, an eye disease in dogs List of systemic diseases with ocular manifestations, in humans This disambiguation page lists articles associated with the title Retinal degeneration. (wikipedia.org)
  • And yet, over 20 million Americans are living with retinal diseases for which the only prognosis is severe or complete vision loss. (databasefootball.com)
  • Despite the success of the intravitreal delivery of therapeutic protein for the treatment of neovascular and edema-related retinal disease, there has been no development of this approach for the treatment of severe loss of vision in the approximately 18 million patients inflicted with other retinal diseases. (databasefootball.com)
  • The University of Wisconsin - Madison Inherited Retinal Degeneration (IRD) Clinic was established by UW Health and the Department of Ophthalmology and Visual Sciences to offer expanded services such as specialized examinations and testing, physician consultation, genetic counseling, imaging, lab work and information about ongoing clinical trials and current research about inherited eye diseases. (wisc.edu)
  • Owing to a combination of lifestyle changes such as eating a high-fat diet and decrease in physical activity and extended life expectancy, an increasing number of people are at risk for retinal diseases, and the resulting economic burden imposed on health care systems is increasing accordingly. (hindawi.com)
  • We invite authors to contribute original research articles and reviews focusing on the role of oxidative stress in retinal diseases. (hindawi.com)
  • This special issue will stimulate further efforts to understand retinal diseases at the systems level, with the hope of finding new preconditioning and therapeutic strategies to prevent or treat retinal pathologies. (hindawi.com)
  • There is currently no treatment available for loss of vision due to optic nerve atrophy or retinal ganglion cell loss, which can be caused by end-stage glaucoma, traumatic optic atrophy, 2 and other diseases. (nature.com)
  • In Light of the first FDA approved gene therapy for an inherited retinal disease, there is a promise for many retinal degenerative diseases. (ucsd.edu)
  • Inherited retinal degenerations are a group of rare eye disorders caused by an inherited genetic mutation, and can result in vision loss or blindness. (wisc.edu)
  • Retinal Degenerations (RD) are the leading cause of blindness in the United States. (nih.gov)
  • The RD Fund (Retinal Degeneration Fund) is the venture arm of the Foundation Fighting Blindness, and a leading investor in the retinal disease space. (siliconvalleyjournals.com)
  • Established in 1971, the Foundation Fighting Blindness is the world's leading private funding source for retinal degenerative disease research. (siliconvalleyjournals.com)
  • Perceive was founded on compelling research elucidating two novel protective biologies for treating retinal blindness, developed from foundational collaborations in genetic science and target validation. (siliconvalleyjournals.com)
  • The iPS cells are then programmed to become retinal pigment epithelial cells, the type of cell that dies early in the geographic atrophy form of AMD. (nih.gov)
  • The retinal blood vessel walls were extensively hyalinized, with cell debris and deposition of basement-membrane-like material, which may have originated from perivascular pigment-laden cells of pigment epithelial origin. (elsevierpure.com)
  • These data support the hypothesis that calcineurin activation is an important mediator of RGC degeneration, and are consistent with the hypothesis that calcineurin activation may contribute to RGC neurodegeneration in glaucoma. (nyu.edu)
  • El trabajo del Instituto de Investigaciones Oftalmológicas Ramón Castroviejo está centrado en campo del glaucoma, la isquemia y las enfermedades neurodegenerativas (Alzheimer, ELA, esclerosis múltiple. (ucm.es)
  • The Role of Microglia in Retinal Neurodegeneration: Alzheimer's Disease, Parkinson, and Glaucoma. (ucm.es)
  • However, the effects of early and established stages of hypertension combined with diabetes on the development of retinopathy and possible contribution to retinal microvascular degeneration remain incompletely understood. (molvis.org)
  • The aim of the current study was to examine the effects of early and established hypertension alone or in combination with diabetes-as known risk factors for vascular damage-on development of retinopathy and retinal microvascular degeneration. (molvis.org)
  • The disorder is characterized by fat malabsorption, spinocerebellar degeneration, acanthocytic red blood cells, and pigmented retinopathy. (medscape.com)
  • A case of advanced pigmentary retinal degeneration is described. (elsevierpure.com)
  • Dive into the research topics of 'Advanced pigmentary retinal degeneration. (elsevierpure.com)
  • Retinal disorders affect this vital tissue. (medlineplus.gov)
  • NFTs are also observed in other pathologies such as Alzheimer's disease (AD), Pick's disease, corticobasal degeneration and PSP, a group of neurological disorders collectively known as tauopathies. (biomedcentral.com)
  • Our findings provide novel insights that increase understanding of retinal degeneration in ciliopathy disorders. (bvsalud.org)
  • Spark Therapeutics (NASDAQ:ONCE), a gene therapy company based in Philadelphia, USA, has announced a new initiative to provide free genetic testing for eligible patients to obtain genetic information and counselling in respect of their progressive retinal disorders. (euretina.org)
  • We have investigated this possibility by injecting PEDF into the eyes of homozygous retinal degeneration (rd) and retinal degeneration slow (rds) mice, two mutants displaying apoptotic photoreceptor loss. (nih.gov)
  • After 3 months, antibiotic treated mice showed significantly higher funduscopy clinical grading scores, indicative of increased focal retinal degeneration. (nih.gov)
  • In a mouse model of RP (rd10 mice), we show that oxidative DNA damage activates microglia through MutY homolog-mediated (MUYTH-mediated) base excision repair (BER), thereby exacerbating retinal inflammation and degeneration. (jci.org)
  • Dysregulated Arginine Metabolism Is Linked to Retinal Degeneration in Cep250 Knockout Mice. (bvsalud.org)
  • We used Cep250 KO mice and untargeted metabolomics to uncover potential mechanisms underlying retinal degeneration . (bvsalud.org)
  • Altogether, these results suggest that dysregulated arginine metabolism contributes to retinal degeneration in Cep250-/- mice . (bvsalud.org)
  • The retinal phenotype of Bmi1(-/-) mice was also characterized by loss of heterochromatin, activation of tandem repeats, oxidative stress and Rip3-associated necroptosis. (ulaval.ca)
  • Inflammation, oxidative stress, and cell death are involved in the pathogenesis of retinal degeneration in AMD. (nih.gov)
  • Inherited retinal degenerations, caused by mutations in over 100 individual genes, affect approximately 2 million people worldwide. (duke.edu)
  • Mutations in CLN3 (OMIM # 204200 ) lead to retinal degeneration in childhood, with additional development of cerebral neurodegeneration around the same age (classic CLN3) or up to adulthood (protracted CLN3). (jamanetwork.com)
  • 1 However, recent research claims that a subset of mutations in CLN3 , notably the R405W missense mutation, give rise to isolated retinal degeneration. (jamanetwork.com)
  • In August of this year Spark had reported that a clinical study on patients with retinal degeneration caused by RPE-65 mutations had delivered positive results in respect of visual function and full-field sensitivity testing. (euretina.org)
  • Cataract surgery is a risk factor for new retinal breaks. (guidelinecentral.com)
  • Cheng CS, Natividad MG, Earnest A, Yong V, Lim BA, Wong HT, Yip LW (2011) Comparison of the influence of cataract and pupil size on retinal nerve fibre layer thickness measurements with time-domain and spectral-domain optical coherence tomography. (springer.com)
  • The most successful treatment for retinal disease to date has been an injection of a therapeutic protein into the vitreous of patients. (databasefootball.com)
  • Examine symptomatic patients who have an acute PVD to detect and treat associated retinal breaks or tears. (guidelinecentral.com)
  • Spark Therapeutics Inc., (NASDAQ:ONCE) announces free genetic testing and counselling services for patients with inherited retinal degenerations. (euretina.org)
  • While deciding to be tested is always a personal decision between patients and their physicians, this type of information can identify the underlying genetic cause of a person's retinal disease and help them understand how the disease may affect their vision over their lifetime. (euretina.org)
  • Selected patients, particularly those with any degree of vitreous pigment, vitreous or retinal hemorrhage, or visible vitreoretinal traction, should be asked to return for a second examination promptly if they have new symptoms or within 6 weeks following the onset of PVD symptoms. (guidelinecentral.com)
  • Clinical trials with gene augmentation therapy have shown partial reversal of the dysfunction, but the effects on the degeneration are not known. (upenn.edu)
  • joining over 80,000 alone read ia for book retinal degeneration clinical at nuclear tests. (buoncore.com)
  • You should know personal book retinal degeneration clinical and laboratory applications 1993 in these companies. (buoncore.com)
  • Chiara Atik The book retinal degeneration clinical will attend integrated to your Kindle message. (buoncore.com)
  • Angliyskaya etimologiya: book retinal degeneration clinical. (buoncore.com)
  • Some interviews personalize Printed to understand ia that Have the book retinal degeneration clinical pilot, while Businesses give selections that are it. (buoncore.com)
  • Further work should aim to validate whether these observations are fully translatable to a clinical scenario, which would recommend follow-up retinal and optic nerve examination in FTD. (biomedcentral.com)
  • S334ter-3 retinal slices demonstrated the production of reactive oxygen species (ROS) and photoreceptor cell death. (arvojournals.org)
  • Chemical chaperones and TUDCA are able to partially suppress retinal photoreceptor cell death and subsequently delay RP formation in the transgenic S334ter-3 rats. (arvojournals.org)
  • RPE dysfunction and degeneration leads to photoreceptor cell death and vision loss, a common factor among several forms of RD. (nih.gov)
  • Educate high-risk patients about symptoms of PVD, retinal breaks, and retinal detachments as well as the need for periodic follow-up. (guidelinecentral.com)
  • Traction and serous retinal detachments (not involving retinal breaks) cause central or peripheral vision loss. (msdmanuals.com)
  • Traction and serous retinal detachments do not involve a break and are called nonrhegmatogenous. (msdmanuals.com)
  • Traction and serous (exudative) retinal detachments can cause blurriness of vision, but they may not cause any symptoms in the early stages. (msdmanuals.com)
  • Direct funduscopy using a handheld ophthalmoscope can miss some retinal detachments, which may be peripheral. (msdmanuals.com)
  • You may be able to prevent retinal vein occlusion from occurring by properly managing any health conditions which increase the risk of retinal vascular disease. (foresthillsretina.com)
  • Conclusions: Calcineurin activation is sufficient to cause RGC dendritic degeneration and optic nerve damage. (nyu.edu)
  • Schulze A, Lamparter J, Pfeiffer N, Berisha F, Schmidtmann I, Hoffmann EM (2011) Diagnostic ability of retinal ganglion cell complex, retinal nerve fiber layer, and optic nerve head measurements by Fourier-domain optical coherence tomography. (springer.com)
  • We combined an adaptive cortical atlas and diffusion-weighted magnetic resonance imaging (dMRI) and tractography to separate optic radiation (OR) projections to different retinal eccentricities in human primary visual cortex. (elsevierpure.com)
  • Retinal ganglion cells are unable to regenerate, making this condition irreversible in many cases. (nature.com)
  • Whole-eye transplantation (WET) provides the opportunity to replace diseased retinal ganglion cells, as well as the entire optical system and surrounding facial tissue, if necessary. (nature.com)
  • The conserved mapping between retinal and white matter damage suggests that retinal neurodegeneration might be a primary cause of white matter degeneration in AMD patients. (elsevierpure.com)
  • In eyes with epiretinal membrane, measuring errors in the SD-OCT occur significantly more frequently than in eyes without any retinal pathologies. (springer.com)
  • Recognize the evolution of retinal breaks and lattice degeneration. (guidelinecentral.com)
  • Lattice degeneration is a common condition, affecting about 8-10% of the general population. (retinautah.com)
  • Lattice degeneration may also develop in rare conditions impacting eye and vision health, including Stickler syndrome, Ehlers-Danlos, and Marfan syndrome. (retinautah.com)
  • As lattice degeneration itself does not cause symptoms, it is typically only detected and diagnosed during an annual dilated eye examination performed by an ophthalmologist. (retinautah.com)
  • What Does The Lattice Degeneration Eye Exam Entail? (retinautah.com)
  • Purpose: We previously reported that calcineurin, a Ca 2+ /calmodulin-dependent serine/threonine phosphatase, is activated and proposed that it participates in retinal ganglion cell (RGC) apoptosis in two rodent ocular hypertension models. (nyu.edu)
  • In this study, we tested whether calcineurin activation by itself, even in the absence of ocular hypertension, is sufficient to cause RGC degeneration. (nyu.edu)
  • Dogs treated later during the combined dysfunction and degeneration stage also showed visual function improvement, but photoreceptor loss continued unabated, the same as in human RPE65-LCA. (upenn.edu)
  • Central and peripheral retinal labelling of tau and phosphorylated tau (pTau) was quantified and retinal layer thicknesses and cell numbers assessed. (biomedcentral.com)
  • A retinal vein occlusion occurs when one of these veins is blocked or obstructed. (foresthillsretina.com)
  • There are two different types of retinal vein occlusion. (foresthillsretina.com)
  • Central retinal vein occlusion (CRVO) occurs when the main vein of the eye becomes blocked. (foresthillsretina.com)
  • Branch retinal vein occlusion (BRVO) occurs when one of the smaller branches of vessels becomes blocked. (foresthillsretina.com)
  • There is no known cure for retinal vein occlusion though the complications listed above can be treated with intravitreal injections or laser surgery to stabilize or improve vision. (foresthillsretina.com)
  • We evaluated the consequences of gene therapy on retinal degeneration in patients with RPE65-LCA and its canine model. (upenn.edu)
  • The effects of gene augmentation therapy are complex and suggest a need for a combinatorial strategy in RPE65-LCA to not only improve function in the short term but also slow retinal degeneration in the long term. (upenn.edu)
  • In total, our results indicate that pigmentation of the RPE is a cornerstone of RPE-retinal interaction and support and that the receptor in the pigmentation pathway most likely underlies the racial bias of the disease. (nih.gov)
  • In our study published in Experimental Eye Research in 2018, we have made significant progress in addressing the latter two obstacles preventing the development of intravitreal protein therapy for retinal disease. (databasefootball.com)
  • The results suggest that, in RPE65 disease treatment, protection from visual function deterioration cannot be assumed to imply protection from degeneration. (upenn.edu)
  • The ERG early shows loss of rod function and progression of the retinal disease subsequently leads to extinction of all rod and cone responses by midlife. (arizona.edu)
  • Symptoms of retinal vascular disease are sudden blurring or loss of vision in all or part of one eye. (foresthillsretina.com)
  • Retinal Macroglial Responses in Health and Disease. (ucm.es)
  • Analysis of Retinal Peripapillary Segmentation in Early Alzheimer's Disease Patients. (ucm.es)
  • Our results identify key molecular mechanisms involved such as imbalance between the stress Jun N-terminal kinase (JNK) and survival protein kinase B (PKB/Akt) pathways and increased systemic and retinal oxidative/inflammatory stress, resulting in increased retinal cell death and exacerbated acellular capillary formation. (molvis.org)
  • Rate of Progression in EYS Related Retinal Degeneration (Pro-EYS). (wisc.edu)
  • Retinal homeobox genes and the role of cell proliferation in cavefish eye degeneration. (ehu.eus)
  • We are comparing the expression patterns of various eye regulatory genes during surfacefish and cavefish development to determine the cause of eye degeneration. (ehu.eus)
  • We aimed to examine the extent to which measurement errors in the determination of retinal nerve fibre layer (RNFL) using spectral-domain optical coherence tomography (SD-OCT) occur in cases of epiretinal membrane and whether systematic deviations are found in the values obtained. (springer.com)
  • Lee DW, Kim JM, Park KH, Choi CY, Cho JG (2010) Effect of media opacity on retinal nerve fiber layer thickness measurements by optical coherence tomography. (springer.com)
  • Spectral domain optical coherence tomography imaging of the posterior segment of the eye in the retinal dysplasia and degeneration chicken, an animal model of inherited retinal degeneration. (omia.org)
  • In conclusion, combining diabetes and hypertension-potentiated retinal oxidative/inflammatory stress promoted imbalance between the JNK stress and survival Akt pathways resulting in accelerated retinal cell death and acellular capillary formation. (molvis.org)
  • In the early stage of retinal degeneration, oxidative DNA damage accumulated in the microglia and caused single-strand breaks (SSBs) and poly(ADP-ribose) polymerase activation. (jci.org)
  • Acute horseshoe retinal tears and traumatic breaks usually require treatment. (guidelinecentral.com)
  • Vitrectomy surgery is a more invasive procedure in which an incision is made in the eye to remove some of the vitreous humor and repair any retinal tears. (meghalayamagazine.in)
  • Hypertension and diabetes are known risk factors for retinal microvascular damage. (molvis.org)
  • We found differences in white matter properties specific to OR white matter fascicles projecting to primary visual cortex locations corresponding to the location of retinal damage (fovea). (elsevierpure.com)
  • In sum, we demonstrate a specific relation between visual loss, anatomical location of retinal damage and white matter damage in AMD patients. (elsevierpure.com)
  • Frontotemporal dementia (FTD) is a neurodegenerative disorder characterised by degeneration within the frontal and temporal lobes of the brain [ 20 , 41 , 46 ]. (biomedcentral.com)
  • Patients presenting with an acute PVD and no retinal breaks have a small chance (∼2%) of developing retinal breaks in the weeks that follow. (guidelinecentral.com)
  • Between 5% and 14% of patients found to have an initial retinal break will develop additional breaks during long-term follow-up. (guidelinecentral.com)
  • A meeting with low-vision/blind patients at FDA to share perspectives regarding their experience living with retinal degenerations in order to enrich the knowledge of CDRH staff involved in the review of these devices. (nih.gov)