Retinal Dysplasia
Retinal Diseases
Retinal Degeneration
Retina
Severe ocular abnormalities in C57BL/6 but not in 129/Sv p53-deficient mice. (1/32)
PURPOSE: To demonstrate the importance of genetic background interaction on the development of ocular phenotypes in p53-deficient mice. METHODS: Eyes of adult mice, homozygous and heterozygous for the p53 gene disruption in the 129/SvJ and C57BL/6J (B6) genetic backgrounds, and their F1 progeny were examined by indirect ophthalmoscopy and by light microscopy. RESULTS: Indirect ophthalmoscopy revealed unilateral or bilateral vitreal opacities, fibrous retrolental tissue, and retinal folds in adult B6 mice but not in 129/Sv mice homozygous for a p53 null mutation. In B6 p53-/- mice, blood vessels extended from the peripapillary inner retina through the posterior vitreous and into the retrolental membrane. Optic nerves were hypoplastic. CONCLUSIONS: These findings indicate that alleles from the B6 background contribute to the aberrant ocular phenotypes observed in p53 deficiency. They also suggest that p53 or the pathway in which it functions may be important for normal eye development. (+info)Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis. (2/32)
Coats' disease is characterized by abnormal retinal vascular development (so-called 'retinal telangiectasis') which results in massive intraretinal and subretinal lipid accumulation (exudative retinal detachment). The classical form of Coats' disease is almost invariably isolated, unilateral and seen in males. A female with a unilateral variant of Coats' disease gave birth to a son affected by Norrie disease. Both carried a missense mutation within the NDP gene on chromosome Xp11.2. Subsequently analysis of the retinas of nine enucleated eyes from males with Coats' disease demonstrated in one a somatic mutation in the NDP gene which was not present within non-retinal tissue. We suggest that Coats' telangiectasis is secondary to somatic mutation in the NDP gene which results in a deficiency of norrin (the protein product of the NDP gene) within the developing retina. This supports recent observations that the protein is critical for normal retinal vasculogenesis. (+info)Functional domains of the cone-rod homeobox (CRX) transcription factor. (3/32)
The paired-like homeodomain transcription factor CRX (cone-rod homeobox) is involved in regulating photoreceptor gene expression and rod outer segment development. Mutations in CRX have been associated with several retinal degenerative diseases. These conditions range from Leber congenital amaurosis (a severe cone and rod degeneration of childhood onset) to adult onset cone-rod dystrophy and retinitis pigmentosa (an adult onset condition that primarily affects rods). The goal of this study is to better understand the molecular basis of CRX function and to provide insight into how mutations in CRX cause such a variety of clinical phenotypes. We performed deletion analysis in conjunction with DNA binding and transient transfection-based transactivation studies to identify the functional domains within CRX. DNA binding requires a complete homeodomain. Furthermore, truncated proteins that did not contain an intact homeodomain failed to demonstrate detectable expression in tissue culture upon transfection. Transactivation analysis indicated that both the OTX tail and the WSP domain are important for controlling positive regulatory activity of CRX. Interestingly, the mapped CRX transactivation domains were also critical when coexpressed with NRL. Specifically, the synergy between CRX and NRL was constant regardless of which CRX variant was used. (+info)Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice. (4/32)
The rd7 mouse is a model for hereditary retinal degeneration characterized clinically by retinal spotting throughout the fundus and late onset retinal degeneration, and histologically by retinal dysplasia manifesting as folds and whorls in the photoreceptor layer. This study demonstrates that the rd7 phenotype results from a splicing error created by a genomic deletion of an intron and part of an exon. Hematoxylin/eosin staining of rd7 tissue shows that the whorls in the outer nuclear layer of the retina do not appear during embryonic development but manifest by postnatal day 12.5 (P12.5). Furthermore, in situ hybridization data indicates that the Nr2e3 message is first present at barely discernable levels at embryonic day 18.5, becomes abundant by P2.5, and reaches maximal adult levels by P10.5. Results from these experiments indicate that Nr2e3 message is expressed prior to the development of S-cones. This data coincides with studies in humans showing that mutations in Nr2e3 result in a unique type of retinal degeneration known as enhanced S-cone syndrome, where patients have a 30-fold increase in S-cone sensitivity compared to normal. Immunohistochemical staining of cone cells demonstrates that rd7 retinas have an increased number of cone cells compared to wild-type retinas. Thus, Nr2e3 may function by regulating genes involved in cone cell proliferation, and mutations in this gene lead to retinal dysplasia and degeneration by disrupting normal photoreceptor cell topography as well as cell-cell interactions. (+info)Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene. (5/32)
Retinitis pigmentosa (RP), a common group of human retinopathic diseases, is characterized by late-onset night blindness, loss of peripheral vision, and diminished or absent electroretinogram (ERG) responses. Mutations in the photoreceptor-specific gene RP1 account for 5-10% of cases of autosomal dominant RP. We generated a mouse model of the RP1 form of RP by targeted disruption of the mouse ortholog (Rp1) of human RP1. In Rp1(-/-) mice, the number of rod photoreceptors decreased progressively over a period of 1 year, whereas that of cone photoreceptors did not change for at least 10 months. Light and electron microscopic analysis revealed that outer segments of Rp1(-/-) rods and cones were morphologically abnormal and became progressively shorter in length. Before photoreceptor cell death, rhodopsin was mislocalized in inner segments and cell bodies of Rp1(-/-) rods. Rod ERG amplitudes of Rp1(-/-) mice were significantly smaller than those of Rp1(+/+) mice over a period of 12 months, whereas those of Rp1(+/-) mice were intermediate. The decreases in cone ERG amplitudes were slower and less severe than those in rods. These findings demonstrate that Rp1 is required for normal morphogenesis of photoreceptor outer segments and also may play a role in rhodopsin transport to the outer segments. The phenotype of Rp1 mutant mice resembles the human RP1 disease. Thus, these mice provide a useful model for studies of RP1 function, disease pathology, and therapeutic interventions. (+info)Loss of heterozygosity for the NF2 gene in retinal and optic nerve lesions of patients with neurofibromatosis 2. (6/32)
Individuals affected with the neurofibromatosis 2 (NF2) cancer predisposition syndrome develop specific ocular lesions. To determine whether these lesions result from altered NF2 gene expression, microdissection and PCR were used to investigate 40 ocular lesions from seven eyes of four NF2 patients for LOH, with markers that flank the NF2 gene on chromosome 22q. NF2 protein (merlin) expression was also evaluated in these lesions, using immunohistochemistry. Retinal hamartoma was observed in all seven eyes, including one with combined pigment epithelial and retinal hamartoma (CPERH). Retinal tufts were present in four eyes (three patients), retinal dysplasia in two eyes (two patients), optic nerve neurofibroma in one eye, iris naevoid hyperplasia in two eyes (two patients) and pseudophakia in all eyes. Markers were informative in three patients (six eyes from three unrelated families). One patient was non-informative due to prolonged decalcification. All retinal and optic nerve, but not iris lesions, demonstrated consistent LOH for the NF2 gene. Merlin was not expressed in the retina, optic nerve, or iris lesions. These results suggest that inactivation of the NF2 gene is associated with the formation of a variety of retinal and optic nerve lesions in NF2 patients. (+info)Analysis of the rdd locus in chicken: a model for human retinitis pigmentosa. (7/32)
PURPOSE: To identify the locus responsible for the blind mutation rdd (retinal dysplasia and degeneration) in chickens and to further characterise the rdd phenotype. METHODS: The eyes of blind and sighted birds were subjected to ophthalmic, morphometric and histopathological examination to confirm and extend published observations. Electroretinography was used to determine age of onset. Birds were crossed to create pedigrees suitable for genetic mapping. DNA samples were obtained and subjected to a linkage search. RESULTS: Measurement of IOP, axial length, corneal diameter, and eye weight revealed no gross morphological changes in the rdd eye. However, on ophthalmic examination, rdd homozygotes have a sluggish pupillary response, atrophic pecten, and widespread pigmentary disturbance that becomes more pronounced with age. Older birds also have posterior subcapsular cataracts. At three weeks of age, homozygotes have a flat ERG indicating severe loss of visual function. Pathological examination shows thinning of the RPE, ONL, photoreceptors and INL, and attenuation of the ganglion cell layer. From 77 classified backcross progeny, 39 birds were blind and 38 sighted. The rdd mutation was shown to be sex-linked and not autosomal as previously described. Linkage analysis mapped the rdd locus to a small region of the chicken Z chromosome with homologies to human chromosomes 5q and 9p. CONCLUSIONS: Ophthalmic, histopathologic, and electrophysiological observations suggest rdd is similar to human recessive retinitis pigmentosa. Linkage mapping places rdd in a region homologous to human chromosomes 9p and 5q. Candidate disease genes or loci include PDE6A, WGN1, and USH2C. This is the first use of genetic mapping in a chicken model of human disease. (+info)Abnormalities of the vitreoretinal interface caused by dysregulated Hedgehog signaling during retinal development. (8/32)
Mutations in Patched (PTCH), encoding the Hedgehog (Hh) receptor, underlie Basal Cell Naevus syndrome (BCNS) and, in addition to tumor predisposition, are associated with a wide range of 'patterning' defects. The basis for the underlying patterning problems in Hh-dependent tissues in BCNS and their long-term consequences on tissue homeostasis are, however, not known. Hh signaling is required for normal growth and organization of the mammalian retina and we show that PtchlacZ+/- mice exhibit vitreoretinal abnormalities resembling those found in BCNS patients. The retinas of PtchlacZ+/- mice exhibit abnormal cell cycle regulation, which culminates in photoreceptor dysplasia and Muller cell-derived gliosis. In BCNS, the intraretinal glial response results in epiretinal membrane (ERM) formation, a proliferative and contractile response on the retinal surface. ERMs are a cause of significant visual loss in the general, especially elderly, population. We hypothesize that alteration of Muller cell Hh signaling may play a role in the pathogenesis of such age-related 'idiopathic' ERMs. (+info)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.
Eye abnormalities refer to any structural or functional anomalies that affect the eye or its surrounding tissues. These abnormalities can be present at birth (congenital) or acquired later in life due to various factors such as injury, disease, or aging. Some examples of eye abnormalities include:
1. Strabismus: Also known as crossed eyes, strabismus is a condition where the eyes are misaligned and point in different directions.
2. Nystagmus: This is an involuntary movement of the eyes that can be horizontal, vertical, or rotatory.
3. Cataracts: A cataract is a clouding of the lens inside the eye that can cause vision loss.
4. Glaucoma: This is a group of eye conditions that damage the optic nerve and can lead to vision loss.
5. Retinal disorders: These include conditions such as retinal detachment, macular degeneration, and diabetic retinopathy.
6. Corneal abnormalities: These include conditions such as keratoconus, corneal ulcers, and Fuchs' dystrophy.
7. Orbital abnormalities: These include conditions such as orbital tumors, thyroid eye disease, and Graves' ophthalmopathy.
8. Ptosis: This is a condition where the upper eyelid droops over the eye.
9. Color blindness: A condition where a person has difficulty distinguishing between certain colors.
10. Microphthalmia: A condition where one or both eyes are abnormally small.
These are just a few examples of eye abnormalities, and there are many others that can affect the eye and its functioning. If you suspect that you have an eye abnormality, it is important to consult with an ophthalmologist for proper diagnosis and treatment.
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.
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.
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.
Retinal dysplasia
Senior-Løken syndrome
Labrador Retriever
Field Spaniel
Birth defect
Dogue de Bordeaux
Berger Picard
Canid alphaherpesvirus 1
Havanese dog
Pointer (dog breed)
Retina
Norrie disease
Ibizan Hound
Cavalier King Charles Spaniel
CDKN1B
Tibetan Terrier
Vizsla
Photoreceptor cell-specific nuclear receptor
List of dog diseases
Samoyed dog
Labradoodle
Progressive retinal atrophy
Giant Schnauzer
K9 Killer
Red reflex
Carnivore protoparvovirus 1
Bullmastiff
Retinal haemorrhage
Fryns syndrome
Bedlington Terrier
Retinal dysplasia - Wikipedia
Retinal Dysplasia Mimicking Intraocular Tumor: MR Imaging Findings with Histopathologic Correlation | American Journal of...
Retinal Dysplasia In Dogs - Petmoo
Paw Print Genetics - Progressive Retinal Atrophy, Rod-Cone Dysplasia 4 in the Standard Poodle
Eyes
Investigation into the pathogenesis of retinal dysplasia in the miniature schnauzer and English springer spaniel dog
Walker-Warburg syndrome: MedlinePlus Genetics
Disorders of the Retina, Choroid, and Optic Disk (Ocular Fundus) in Dogs - Dog Owners - Merck Veterinary Manual
Oral-Facial-Digital Syndrome Type I - GeneReviews® - NCBI Bookshelf
Advanced Search Results - Public Health Image Library(PHIL)
Spondyloepiphyseal Dysplasia: Practice Essentials, Pathophysiology, Etiology
The Tibetan Spaniel
Advanced Search Results - Public Health Image Library(PHIL)
English Springer Spaniel
Siamese - PDSA
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Coats sykdom - NEL - Norsk Elektronisk Legehåndbok
Spondyloepiphyseal Dysplasia: Practice Essentials, Pathophysiology, Etiology
Leber Congenital Amaurosis - American Academy of Ophthalmology
Top 20 Most Popular Dog Breeds In Canada - Dogs And Puppies Central
Can You See? Inherited Eye Disease - Working Aussie Source
Golden Retriever Breed Information, Characteristics & Heath Problems | DogZone.com
Detachment14
- Retinal detachment occurs with complete retinal dysplasia, and is accompanied by blindness in that eye. (wikipedia.org)
- Cavalier King Charles Spaniel - retinal folds, geographic, or retinal detachment. (wikipedia.org)
- Australian Shepherd - retinal dysplasia occurs with other eye disorders, such as an oval pupil, microcornea (small cornea), cataracts, and retinal detachment. (wikipedia.org)
- Both forms often cause retinal detachment. (wikipedia.org)
- We report a 6-month-old boy who presented with unilateral leukocoria, retinal detachment, and a retrolental mass in a microphthalmic eye based on retinal dysplasia with concurrent optic nerve aplasia. (ajnr.org)
- The mass in combination with retinal detachment obscured clear visualization of optic nerve disc and macula. (ajnr.org)
- Fundus photograph of the left eye shows a retrolental mass (D, arrows ) in the inferomedial quadrant of the vitreous (V) with large irregular feeder vessels, focal hemorrhages, and retinal detachment (R, arrowheads ). (ajnr.org)
- MR imaging showed a mass arising from the nasal ciliary body region with high signal intensity (SI) on T1-weighted (T1WI) and low SI on T2-weighted (T2WI) images, combined with a normal-appearing vitreous and tent-shaped retinal detachment with subretinal exudate ( Fig 2 ). (ajnr.org)
- Axial T1WI ( A ) image shows a hyperintense mass in the anterior part of the vitreous (V), adjacent to the ciliary body (CB) on either side of the lens, combined with a tent-shaped retinal detachment with hyperintense subretinal fluid (SF). (ajnr.org)
- T2WI ( B ) image shows retinal detachment as a hypointense fine linear structure (R) and clearly demarcates the dysplastic retinal tissue (D). After we applied the contrast material ( C , contrast-enhanced fat-suppressed T1WI image), the latter shows enhancement (D), in contrast to the detached retina (R) and subretinal fluid. (ajnr.org)
- In the developmental stage, the neural retina's Secondary detachment from the retinal pigment epithelium (RPE) is another theory. (petmoo.com)
- Retinal dysplasia - detached: Severe retinal disorganization associated with separation (detachment) of the retina. (ackcsc.org)
- Wu L, Evans T. Retinal Detachment, Exudative. (legehandboka.no)
- Dogs affected with this condition will exhibit some combination of the following: Microphthalmia, eccentric pupils, coloboma or other irregularities of the iris, lens luxation, cataract, retinal dysplasia or detachment, persistent pupillary membrane, equatorial staphyloma and lack of a tapetum. (workingaussiesource.com)
Blindness3
- There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. (ackcsc.org)
- Progressive retinal atrophy - a genetic eye problem which causes progressive blindness. (pdsa.org.uk)
- Progressive retinal atrophy causes retinal deterioration in dogs, leading to night blindness and potential full blindness. (dchristyauctions.com)
Progressive13
- Chickens Progressive retinal atrophy Gelatt, Kirk N. (ed.) (1999). (wikipedia.org)
- Retinal dysplasia is an autosomal, inherited, bilateral, non-progressive, retinal malformation due to tubular rosettes and linear folds within the sensory retina. (petmoo.com)
- Progressive retinal Atrophy , Rod -cone dysplasia 4 (PRA-RCD4) is a late-onset inherited eye disease affecting dogs. (pawprintgenetics.com)
- Initial clinical signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the Retina called the Tapetum that can be observed on a veterinary eye exam. (pawprintgenetics.com)
- However, because there are multiple types of progressive retinal Atrophy caused by mutations in other genes, a normal result in C2ORF71 does not exclude progressive retinal atrophy in a pedigree. (pawprintgenetics.com)
- Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71. (pawprintgenetics.com)
- Health issues common to Labradors include hip and elbow dysplasia, progressive retinal atrophy, and obesity. (dogs-central.com)
- Common health issues include hip dysplasia, progressive retinal atrophy, and epilepsy. (dogs-central.com)
- Cataracts, Collie Eye Anomaly (CEA), and Progressive Retinal Atrophy (PRA), to name the most devastating, occur in most or all of these breeds. (workingaussiesource.com)
- This breed is hardy, but some are prone to hip dysplasia, progressive retinal atrophy, and eye disease. (puppyfinder.com)
- The Redbone Coonhound is generally a healthy breed but can develop hip dysplasia , progressive retinal atrophy, or ear infections. (pethealthnetwork.com)
- deafness, progressive retinal atrophy, hip dysplasia. (puppyeducation.com)
- Labrador Retrievers are prone to certain genetic health conditions, such as hip and elbow dysplasia, progressive retinal atrophy, and exercise-induced collapse. (greenshadowcabinet.us)
Cataracts2
- Cataracts or glaucoma can also occur secondary to retinal dysplasia. (wikipedia.org)
- They can inherit juvenile cataracts, retinal dysplasia, and other eye diseases. (ackcsc.org)
Multifocal retinal dysplasia1
- Focal and multifocal retinal dysplasia appears as streaks and dots in the central retina. (wikipedia.org)
Abnormal5
- Retinal dysplasia - geographic: Any irregularly shaped area of abnormal retinal development containing both areas of thinning and areas of elevation representing folds and retinal disorganization. (ackcsc.org)
- An abnormal development of the retina called retinal dysplasia is present at birth and may arise from trauma, genetic defect, or damage occurring while in the womb. (merckvetmanual.com)
- Spondylo- refers to the spine, epiphyseal refers to the growing ends of bones, and dysplasia refers to abnormal growth. (medscape.com)
- Retinal dysplasia: abnormal retinal development, no treatment. (dchristyauctions.com)
- It causes abnormal retinal development. (yyorkie.com)
Pigment epithelium1
- Among other extracolonic manifestations, odontomas, pigmented lesions of the fundus, congenital hypertrophy of the retinal pigment epithelium and dental anomalies, such as supernumerary and impacted teeth, are present. (bvsalud.org)
Retina7
- Retinal dysplasia is an eye disease affecting the retina of animals and, less commonly, humans. (wikipedia.org)
- Geographic retinal dysplasia appears as an irregular or horseshoe-shaped area of mixed hyper or hyporeflectivity in the central retina. (wikipedia.org)
- Cats - Retinal dysplasia occurs in utero or in newborns infected with feline leukemia virus or feline panleukopenia, which cause necrosis and disorganization of the retina. (wikipedia.org)
- Progression of the disease leads to thinning of the retinal blood vessels, signifying decreased blood flow to the retina. (pawprintgenetics.com)
- It has recently been hypothesized that Miniature Schnauzer dogs affected with retinal dysplasia and associated persistent hyperplastic primary vitreous have a decreased amount of Tfam and several mtDNA transcripts in the retina and RPE. (usask.ca)
- Due to these recent discoveries in this breed it has been proposed that retinal dysplasia could be the result of an altered energy supply to the retina and RPE. (usask.ca)
- Further evaluation of mitochondria, mtDNA and mitochondrial gene expression within age-matched retina and RPE of Miniature Schnauzer and English Springer Spaniel dogs is necessary to determine if mitochondria and altered energy supply play a role in the pathogenesis of retinal dysplasia in these breeds. (usask.ca)
Localized retinal degeneration1
- The severity of the retinal dysplasia varies from simple linear lesions (folds) to larger geographic lesions that may be accompanied by pigmentary changes and localized retinal degeneration, or, sometimes vitreoretinal dysplasia with total retinal non-attachment (in its most severe form). (petmoo.com)
Degeneration3
- Affected dogs begin showing clinical symptoms related to retinal degeneration between 7 to 12 years of age. (pawprintgenetics.com)
- Familial non-rcd1 generalised retinal degeneration in Irish setters. (pawprintgenetics.com)
- The most common problem seen is retinal atrophy, degeneration or dysplasia. (rottclub.ca)
Pathogenesis of retinal2
- The objective of this study was to further investigate the pathogenesis of retinal dysplasia in the Miniature Schnauzer and English Springer Spaniel dog. (usask.ca)
- The major observation considered to be involved in the pathogenesis of retinal lesions is abnormalities in the internal limiting membrane formed by Müller cells, which is corresponding to the glia limitans formed by astrocytes in the brain. (intechopen.com)
Genetic3
- Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. (pawprintgenetics.com)
- The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined. (ackcsc.org)
- The genetic relationship between the three forms of retinal dysplasia is not known for all breeds. (ackcsc.org)
Congenital3
- Dysplastic retinal tissue, a rare congenital defect, may create a clinical and radiologic picture of an intraocular mass closely resembling tumor tissue. (ajnr.org)
- SED congenita is a nonlethal form of congenital dwarfism characterized by typical skeletal dysplasias, vertebral changes, and ocular manifestations. (medscape.com)
- Leber congenital amaurosis (LCA) is the second most common group of inherited retinal dystrophies after retinitis pigmentosa, accounting for about 5% of all retinal dystrophies. (aao.org)
English Springe2
- In the English Springer Spaniel dog a relative decrease in leukocyte mtDNA did not exist in dogs affected with retinal dysplasia. (usask.ca)
- In contrast to previous findings of decreased leukocyte mtDNA in the affected Miniature Schnauzer dog, no evidence was found to support a relative decrease in leukocyte mtDNA in English Springer Spaniel dogs affected with retinal dysplasia. (usask.ca)
Dystrophy1
- For example, patients with mutations in CRB1 , LRAT , CEP290, or RPE65 may have VA better than 20/50 and may actually be diagnosed later in early childhood, and sometimes designated as having early-onset childhood retinal dystrophy or early-onset severe childhood retinal dystrophy, rather than LCA. (aao.org)
Folds2
- Retinal dysplasia is characterized by folds or rosettes (round clumps) of the retinal tissue. (wikipedia.org)
- Retinal dysplasia-folds. (ackcsc.org)
Abnormalities2
- Viral infections of the mother (for example, herpesvirus in dogs), especially during early fetal development, can result in many eye abnormalities with retinal dysplasia in puppies. (merckvetmanual.com)
- With the increasing molecular definition of several types of collagen and recognition of the concentration of certain types in cartilage tissue, many skeletal dysplasias came to be defined as collagen abnormalities. (medscape.com)
Ectodermal dysplasia1
- Differential diagnosis includes Rapp-Hodgkin ectodermal dysplasia, loose anagen hair syndrome, ectrodactyly, cleft/lip palate syndrome, familial tricho-odonto-onchyial ectodermal dysplasia with syndactyly and other ectodermal dysplasias. (orpha.net)
Spondyloepiphyseal Dysplasia2
- Spondyloepiphyseal dysplasia (SED) is a descriptive term for a group of disorders with primary involvement of the vertebrae and epiphyseal centers resulting in a short-trunk disproportionate dwarfism. (medscape.com)
- The American Academy of Pediatrics and Committee on Genetics have issued guidelines to assist the pediatrician in caring for children with spondyloepiphyseal dysplasia (SED) and their families. (medscape.com)
Atrophy1
- Today's Labrador Retriever is prone to hip dysplasia, peripheral retinal atrophy, and retinal dysplasia. (spanielsinthefield.com)
Skeletal2
- The Skeletal Dysplasia Management Consortium has developed best practice guidelines for diagnosis and management of type II collagen skeletal dysplasias (including SED). (medscape.com)
- Of the mimics identified, the team classified 28% as metabolic bone disease, 20% as hematologic or vascular, 16% as infectious, 10% as skeletal dysplasia , 9% as neurologic, 5% as oncologic, and 2% as gastrointestinal. (medscape.com)
Hereditary3
- Most cases of retinal dysplasia in dogs are hereditary. (wikipedia.org)
- Prevention of Retinal dysplasia is a hereditary concern. (petmoo.com)
- The prognosis for dogs diagnosed with retinal dysplasia is poor as it is a hereditary condition. (petmoo.com)
Tissue1
- When your dog has retinal dysplasia, there is a layer of tissue that covers the backside of the dog's eyeball. (yyorkie.com)
Vitreous1
- To conclude, we failed to demonstrate a mutation in the areas of the Tfam gene sequenced in Miniature Schnauzers affected with retinal dysplasia and associated persistent hyperplastic primary vitreous. (usask.ca)
Prone to certain health1
- Golden Retrievers are generally healthy but are prone to certain health conditions like hip dysplasia, elbow dysplasia, heart conditions, and certain types of cancer. (dogs-central.com)
Spaniels1
- Retinal dysplasia is thought to be inherited in American Cocker Spaniels, Beagles, Labrador Retrievers, Rottweilers, and Yorkshire Terriers. (merckvetmanual.com)
Bilateral1
- Horses - Retinal dysplasia is bilateral, not inherited, and appears as multifocal or geographic disease. (wikipedia.org)
Lesions1
- However, in contrast to many lesions in the differential diagnosis of leukocoria, to our knowledge, detailed MR imaging findings in retinal dysplasia have not been previously reported. (ajnr.org)
Mutations2
- There are currently 20 retinal genes whose mutations cause the phenotype of LCA, accounting for about 70% of the cases, while the genes underlying the remaining 30% of patients await discovery. (aao.org)
- Norrin (also called Norrie Disease Protein or NDP) is a secreted regulatory protein, mutations in which cause Norrie disease (X-linked retinal dysplasia). (rndsystems.com)
Bloat1
- Health issues common to the breed include hip dysplasia, degenerative myelopathy, and bloat. (dogs-central.com)
Dogs4
- How To Prevent Retinal Dysplasia In Dogs? (petmoo.com)
- Retinal dysplasia has been documented in many breeds of dogs. (usask.ca)
- Again, as in hip dysplasia, these results are skewed toward normal, as these are dogs owned by reputable, conscientious, concerned breeders who have their dogs eyes examined. (rottclub.ca)
- Dogs diagnosed with Retinal Dysplasia are discouraged from breeding due to the disease's likelihood of passing to subsequent generations. (yorkieclothing.com)
Inherited in many breeds1
- Retinal dysplasia is known to be inherited in many breeds. (ackcsc.org)
Bone3
- Other generalized dysplasias with significant vertebral involvement, such as spondylometaphyseal dysplasia or spondyloepimetaphyseal dysplasia, affect the metaphyseal region of the long bone or the metaphyseal and epiphyseal regions of the long bone, respectively. (medscape.com)
- The bristol registry of bone dysplasias: the first 10 years. (bmj.com)
- In adult patients, standard instrumentation may be used, since the spinal canal is not narrowed by bone dysplasia. (medscape.com)
Vessels2
- Histopathologic examination revealed a total absence of the optic nerve, scleral lamina cribrosa, and central retinal vessels. (ajnr.org)
- There may be a scleral aperture, but there are no retinal vessels. (molvis.org)
Genetics1
- Corgis prone to hip dysplasia due to genetics. (dchristyauctions.com)
Leukocoria1
- Retinal dysplasia is a rare cause of childhood leukocoria, which can cause considerable diagnostic difficulty in the differentiation of benign and malignant intraocular pathology. (ajnr.org)
Iris1
- fissures) of the iris, and retinal dysplasia. (msdmanuals.com)
Viral1
- Cattle - Retinal dysplasia occurs in utero through infection with bovine viral diarrhea. (wikipedia.org)
Disease1
- Sheep - Retinal dysplasia occurs by in utero infection with bluetongue disease. (wikipedia.org)
Health2
- Common health issues include brachycephalic syndrome, hip dysplasia, and various skin conditions. (dogs-central.com)
- Retinal dysplasia is an inherited health issue that could lead to vision problems in the long term. (yyorkie.com)
Forms1
- Coats G. Forms of retinal dysplasia with massive exudation. (legehandboka.no)
Treatment1
- There is no treatment for Retinal Dysplasia, but you can make life easier for your pet by keeping food, toys, and water in the same place, walking along the same routes, and not rearranging furniture. (yorkieclothing.com)