Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)
Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with ALBINISM and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)
Involuntary rhythmical movements of the eyes in the normal person. These can be naturally occurring as in end-position (end-point, end-stage, or deviational) nystagmus or induced by the optokinetic drum (NYSTAGMUS, OPTOKINETIC), caloric test, or a rotating chair.
Normal nystagmus produced by looking at objects moving across the field of vision.
Recording of nystagmus based on changes in the electrical field surrounding the eye produced by the difference in potential between the cornea and the retina.
Recording of the average amplitude of the resting potential arising between the cornea and the retina in light and dark adaptation as the eyes turn a standard distance to the right and the left. The increase in potential with light adaptation is used to evaluate the condition of the retinal pigment epithelium.
Voluntary or reflex-controlled movements of the eye.
Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.
Elicitation of a rotatory nystagmus by stimulating the semicircular canals with water or air which is above or below body temperature. In warm caloric stimulation a rotatory nystagmus is developed toward the side of the stimulated ear; in cold, away from the stimulated side. Absence of nystagmus indicates the labyrinth is not functioning.
An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (EAR, INNER); VESTIBULAR NERVE; BRAINSTEM; or CEREBRAL CORTEX. Lesions in the TEMPORAL LOBE and PARIETAL LOBE may be associated with FOCAL SEIZURES that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1)
Idiopathic inflammation of the VESTIBULAR NERVE, characterized clinically by the acute or subacute onset of VERTIGO; NAUSEA; and imbalance. The COCHLEAR NERVE is typically spared and HEARING LOSS and TINNITUS do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304)
A number of tests used to determine if the brain or balance portion of the inner ear are causing dizziness.
Three long canals (anterior, posterior, and lateral) of the bony labyrinth. They are set at right angles to each other and are situated posterosuperior to the vestibule of the bony labyrinth (VESTIBULAR LABYRINTH). The semicircular canals have five openings into the vestibule with one shared by the anterior and the posterior canals. Within the canals are the SEMICIRCULAR DUCTS.
Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.
A reflex wherein impulses are conveyed from the cupulas of the SEMICIRCULAR CANALS and from the OTOLITHIC MEMBRANE of the SACCULE AND UTRICLE via the VESTIBULAR NUCLEI of the BRAIN STEM and the median longitudinal fasciculus to the OCULOMOTOR NERVE nuclei. It functions to maintain a stable retinal image during head rotation by generating appropriate compensatory EYE MOVEMENTS.
Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)
Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)
An oval, bony chamber of the inner ear, part of the bony labyrinth. It is continuous with bony COCHLEA anteriorly, and SEMICIRCULAR CANALS posteriorly. The vestibule contains two communicating sacs (utricle and saccule) of the balancing apparatus. The oval window on its lateral wall is occupied by the base of the STAPES of the MIDDLE EAR.
Pathological processes of the VESTIBULAR LABYRINTH which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls.
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.
Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types.
Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, GAIT ATAXIA, and MUSCLE HYPOTONIA.
The muscles that move the eye. Included in this group are the medial rectus, lateral rectus, superior rectus, inferior rectus, inferior oblique, superior oblique, musculus orbitalis, and levator palpebrae superioris.
A gelatinous membrane overlying the acoustic maculae of SACCULE AND UTRICLE. It contains minute crystalline particles (otoliths) of CALCIUM CARBONATE and protein on its outer surface. In response to head movement, the otoliths shift causing distortion of the vestibular hair cells which transduce nerve signals to the BRAIN for interpretation of equilibrium.
The positioning and accommodation of eyes that allows the image to be brought into place on the FOVEA CENTRALIS of each eye.
An abnormal twisting or rotation of a bodily part or member on its axis.
The four cellular masses in the floor of the fourth ventricle giving rise to a widely dispersed special sensory system. Included is the superior, medial, inferior, and LATERAL VESTIBULAR NUCLEUS. (From Dorland, 27th ed)
Pathological processes of the inner ear (LABYRINTH) which contains the essential apparatus of hearing (COCHLEA) and balance (SEMICIRCULAR CANALS).
A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a "cross-eye" appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze.
The blending of separate images seen by each eye into one composite image.
Images seen by one eye.
The upper part of the human body, or the front or upper part of the body of an animal, typically separated from the rest of the body by a neck, and containing the brain, mouth, and sense organs.
An area approximately 1.5 millimeters in diameter within the macula lutea where the retina thins out greatly because of the oblique shifting of all layers except the pigment epithelium layer. It includes the sloping walls of the fovea (clivus) and contains a few rods in its periphery. In its center (foveola) are the cones most adapted to yield high visual acuity, each cone being connected to only one ganglion cell. (Cline et al., Dictionary of Visual Science, 4th ed)
Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)
A congenital abnormality in which there is only a rudimentary iris. This is due to the failure of the optic cup to grow. Aniridia also occurs in a hereditary form, usually autosomal dominant.
Methods and procedures for recording EYE MOVEMENTS.
An imprecise term which may refer to a sense of spatial disorientation, motion of the environment, or lightheadedness.
General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.
A series of tests used to assess various functions of the eyes.
An abrupt voluntary shift in ocular fixation from one point to another, as occurs in reading.
A muscarinic antagonist that has effects in both the central and peripheral nervous systems. It has been used in the treatment of arteriosclerotic, idiopathic, and postencephalitic parkinsonism. It has also been used to alleviate extrapyramidal symptoms induced by phenothiazine derivatives and reserpine.
The 3d cranial nerve. The oculomotor nerve sends motor fibers to the levator muscles of the eyelid and to the superior rectus, inferior rectus, and inferior oblique muscles of the eye. It also sends parasympathetic efferents (via the ciliary ganglion) to the muscles controlling pupillary constriction and accommodation. The motor fibers originate in the oculomotor nuclei of the midbrain.
Voluntary or involuntary motion of head that may be relative to or independent of body; includes animals and humans.
The turning inward of the lines of sight toward each other.
Eye movements that are slow, continuous, and conjugate and occur when a fixed object is moved slowly.
Pathological processes of the ear, the hearing, and the equilibrium system of the body.
A disease of the inner ear (LABYRINTH) that is characterized by fluctuating SENSORINEURAL HEARING LOSS; TINNITUS; episodic VERTIGO; and aural fullness. It is the most common form of endolymphatic hydrops.
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).
Motion of an object in which either one or more points on a line are fixed. It is also the motion of a particle about a fixed point. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
A condition characterized by the formation of CALCULI and concretions in the hollow organs or ducts of the body. They occur most often in the gallbladder, kidney, and lower urinary tract.
A temporary or persistent opening in the eardrum (TYMPANIC MEMBRANE). Clinical signs depend on the size, location, and associated pathological condition.
A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections.
Cyclohexanecarboxylic acids are organic compounds consisting of a cyclohexane ring substituted with a carboxylic acid group, typically represented by the structural formula C6H11COOH.
A fleshy extension at the back of the soft palate that hangs above the opening of the throat.
Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEM DISEASES; (e.g., EPILEPSY, MYOCLONIC). Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME. (From Adams et al., Principles of Neurology, 6th ed, pp102-3).
Defects of color vision are mainly hereditary traits but can be secondary to acquired or developmental abnormalities in the CONES (RETINA). Severity of hereditary defects of color vision depends on the degree of mutation of the ROD OPSINS genes (on X CHROMOSOME and CHROMOSOME 3) that code the photopigments for red, green and blue.
The part of the brain that connects the CEREBRAL HEMISPHERES with the SPINAL CORD. It consists of the MESENCEPHALON; PONS; and MEDULLA OBLONGATA.
Genes that are located on the X CHROMOSOME.
The position or attitude of the body.
The posterior part of the temporal bone. It is a projection of the petrous bone.
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.
Four clusters of neurons located deep within the WHITE MATTER of the CEREBELLUM, which are the nucleus dentatus, nucleus emboliformis, nucleus globosus, and nucleus fastigii.
The X-shaped structure formed by the meeting of the two optic nerves. At the optic chiasm the fibers from the medial part of each retina cross to project to the other side of the brain while the lateral retinal fibers continue on the same side. As a result each half of the brain receives information about the contralateral visual field from both eyes.
Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition.
The absence or restriction of the usual external sensory stimuli to which the individual responds.
Perception of three-dimensionality.
The real or apparent movement of objects through the visual field.
A characteristic symptom complex.
Diseases of the oculomotor nerve or nucleus that result in weakness or paralysis of the superior rectus, inferior rectus, medial rectus, inferior oblique, or levator palpebrae muscles, or impaired parasympathetic innervation to the pupil. With a complete oculomotor palsy, the eyelid will be paralyzed, the eye will be in an abducted and inferior position, and the pupil will be markedly dilated. Commonly associated conditions include neoplasms, CRANIOCEREBRAL TRAUMA, ischemia (especially in association with DIABETES MELLITUS), and aneurysmal compression. (From Adams et al., Principles of Neurology, 6th ed, p270)

A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3. (1/97)

Congenital nystagmus (CN) is a common oculomotor disorder (frequency of 1/1,500 live births) characterized by bilateral uncontrollable ocular oscillations, with onset typically at birth or within the first few months of life. This condition is regarded as idiopathic, after exclusion of nervous and ocular diseases. X-linked, autosomal dominant, and autosomal recessive modes of inheritance have been reported, but X-linked inheritance is probably the most common. In this article, we report the mapping of a gene for X-linked dominant CN (NYS1) to the short arm of chromosome X, by showing close linkage of NYS1 to polymorphic markers on chromosome Xp11.4-p11.3 (maximum LOD score of 3.20, over locus DXS993). Because no candidate gene, by virtue of its function, has been found in this region of chromosome Xp, further studies are required, to reduce the genetic interval encompassing the NYS1 gene. It is hoped that the complete gene characterization will address the complex pathophysiology of CN.  (+info)

Vertical or asymmetric nystagmus need not imply neurological disease. (2/97)

AIM: To indicate that congenital idiopathic nystagmus (CIN) and sensory defect nystagmus (SDN) can be vertical or asymmetric in some children. METHODS: Of 276 children presenting with nystagmus for electrophysiological testing, 14 were identified as having CIN or SDN, yet had a nystagmus which was either vertical (n=11) or horizontal asymmetric (n=3). Flash electroretinograms and flash and pattern visual evoked potentials (VEPs) were recorded in all patients. Eye movement assessment, including horizontal optokinetic nystagmus (OKN) testing, was carried out in 11/14 patients. RESULTS: Eight patients (seven with vertical, one with asymmetric horizontal nystagmus) had congenital cone dysfunction. One patient with vertical and another with asymmetric nystagmus had cone-rod dystrophy. One patient with vertical upbeat had congenital stationary night blindness. Two patients (one downbeat, one upbeat nystagmus) had normal electrophysiological, clinical, and brain magnetic resonance imaging findings and were classified as having CIN. One patient with asymmetric nystagmus showed electrophysiological and clinical findings associated with albinism. Horizontal OKN was present in 80% of patients tested, including the three cases with horizontal asymmetric nystagmus. This is atypical in both CIN and SDN, where the OKN is usually absent. CONCLUSIONS: Vertical and asymmetric nystagmus are most commonly associated with serious intracranial pathology and its presence is an indication for neuroimaging studies. However, such nystagmus can occur in children with retinal disease, albinism, and in cases with CIN. These findings stress the importance of non-invasive VEP/ERG testing in all cases of typical and also atypical nystagmus.  (+info)

Prospects for treating acquired pendular nystagmus with servo-controlled optics. (3/97)

PURPOSE: To determine whether a device featuring electronically controlled motor-driven prisms can reduce oscillopsia and improve acuity in patients with acquired pendular nystagmus (APN). METHODS: A device was developed that senses eye movements and, by the use of motor-driven prisms, oscillates the image of the world in lockstep with the pathologic nystagmus, to negate its deleterious visual effects. Unlike existing optical and surgical treatments for nystagmus, the device negates only the pathologic movements. Voluntary and normal reflex eye movements required for normal vision are unaffected. The benefits of the device were assessed by its impact on acuity in five patients with medication-refractory APN. RESULTS: All patients reported decreases in oscillopsia when the device was in operation. Averaged across patients, the device increased the percentage of time in which retinal image velocity was within +/-4 degrees/sec from 12.8% to 33.3%. Acuities improved in four of five patients, by an average of 0.21 logMAR units. CONCLUSIONS: The symptoms of pendular nystagmus can be treated with a servomechanical device. Further refinements in the device should result in greater improvements in acuity, and a portable, wearable version is feasible using existing technologies.  (+info)

Early-onset severe rod-cone dystrophy in young children with RPE65 mutations. (4/97)

PURPOSE: To describe the ocular phenotype of patients with RPE65 mutations in infancy and young childhood. METHODS: Four children from three families with severe early-onset visual impairment related to electrophysiologically detectable retinal dystrophy were screened for mutations in the RPE65 gene. Visual function from infancy to the age of 10 years was assessed with age-adapted methods. Clinical examinations and electroretinograms (ERGs) were also performed on the six parents. RESULTS: In all three families, patients were compound heterozygous for mutations of the RPE65 gene (ins144T/IVS1+5G-->A, R91W/Y368H, 1114delA+T457N/IVS1+5G-->A). Visual acuity was measurable in all patients at the age of 6 to 10 years, despite severe visual impairment noted during infancy and congenital nystagmus in three of the four patients. Photophobia was not a feature. Funduscopic changes were discrete, the most prominent finding being increased granularity in the macula and the periphery. Peripheral vision was well preserved, measured by Goldmann perimetry. Rod ERGs were not recordable, whereas cone ERGs were detectable in early childhood. All features taken together suggest a specific form of Leber congenital amaurosis (LCA) distinguishable on clinical grounds. ERGs were normal in five of the six parents. One father had an ERG compatible with congenital stationary night blindness unrelated to his heterozygous state for the RPE65 mutation. CONCLUSIONS: RPE65 mutations on both alleles may be associated with early-onset severe rod-cone dystrophy. Visual functions of the four patients were better than is usually seen in LCA, in particular in cases associated with retGC1 mutations. RPE65 mutations should be suspected in infants who appear to be blind in dim surroundings but react to objects in bright illumination and have nonrecordable rod ERGs and residual cone ERGs.  (+info)

The characteristics of dynamic overshoots in square-wave jerks, and in congenital and manifest latent nystagmus. (5/97)

Dynamic overshoots are seen after voluntary re-fixation saccades. They are microsaccadic movements which follow primary saccades and have no delay. The purpose of this study was to examine the prevalence and metrics of the dynamic overshoots seen after involuntary saccades. Using infra-red oculography we demonstrate that dynamic overshoots are a common occurrence in physiological square-wave jerks, congenital nystagmus and manifest latent nystagmus and that these overshoots are saccadic in nature and have the same dynamic characteristics as those seen following voluntary saccades. It is therefore likely that they share common neural commands to those dynamic overshoots seen after a volitional saccade. All dynamic overshoots are postulated to be the unwanted consequence of making a saccade and are simulated in a model of fast oculomotor behaviour which is consistent with known experimental results.  (+info)

Visual control of postural orientation and equilibrium in congenital nystagmus. (6/97)

PURPOSE: To investigate how humans with congenital nystagmus (CN) use visual information to stabilize and orient their bodies in space. METHODS: Center of foot pressure (COP) and head displacements in the lateral plane were recorded using a sway platform and Schottky barrier photodetector, respectively. In experiment 1, a comparison was made of the oscillatory characteristics of body sway with eyes open compared with eyes closed. Experiment 2 studied the postural readjustments made in response to absolute or relative motion (motion parallax) of objects in the visual scene, generated by lateral displacement of background scenery. RESULTS: Experiment 1 revealed that subjects with CN were not able to use visual information to stabilize COP but were able to stabilize the head at frequencies lower than 1 Hz. Experiment 2 showed that in response to the displacement of a visual display, for both absolute motion and motion parallax, subjects with CN reoriented their body in space in a manner similar to control subjects. CONCLUSIONS: The results suggest that despite involuntary eye movements, subjects with CN use orientation cues to control their posture, but not dynamic cues useful to control the rapid oscillations that are particularly important at the level of COP. These findings suggest that in CN, visual control of posture is restricted by low-frequency sampling of the visual scene.  (+info)

Deletion in the OA1 gene in a family with congenital X linked nystagmus. (7/97)

AIMS: To elucidate the molecular genetic defect of X linked congenital nystagmus associated with macular hypoplasia in three white males of a three generation family with clear features of ocular albinism in only one of them. METHODS: A three generation family with congenital nystagmus following X linked inheritance, and associated with macular hypoplasia was clinically examined (three males and two obligate carriers). Flash VEP was performed to look for albino misrouting. DNA samples were subjected to PCR and subsequent analysis using SSCP for all exons of the OA1 gene. RT-PCR was performed on a mRNA preparation from a naevus from one patient. PCR products presenting divergent banding patterns in SSCP and from the RT-PCR were sequenced directly using cycle sequencing with fluorescent chain termination nucleotides and electrophoresis in a capillary sequencer. RESULTS: The index case (patient 1, IV.1) was diagnosed with X linked OA1 at the age of 3 months because of typical clinical features: congenital nystagmus, iris translucency, macular hypoplasia, fundus hypopigmentation, normal pigmentation of skin and hair, and typical carrier signs of OA1 in his mother and maternal grandmother. Pigmentation of the iris and fundus had increased at the last examination at age 4 years. Albino misrouting was present at this age. In the maternal uncle (III.3, 51 years) who also suffered from congenital nystagmus there was clear macular hypoplasia and stromal focal hypopigmentation of the iris but no iris translucency or fundus hypopigmentation. Patient 3 (II.3, 79 years, maternal uncle of patient III.3) had congenital nystagmus and was highly myopic. The fundus appearance was typical for excessive myopia including macular changes. The iris did not show any translucency. Molecular genetic analysis revealed a novel 14 bp deletion of the OA1 gene at nt816 in exon 6. The mutation abolishes four amino acids (Leu 253-Ile-Ile-Cys) and covers the splice site. Nucleotides 814/815 are used as a new splice donor thus producing a frame shift in codon 252 and a new stop codon at codon 259. CONCLUSIONS: Macular hypoplasia without clinically detectable hypopigmentation as the only sign of X linked OA1 has been reported occasionally in African-American, Japanese, and white patients. The present family shows absent hypopigmentation in two patients of a white family with a deletion in the OA1 gene. We propose a model of OA1 that allows increase of pigmentation with age. We hypothesise that macular hypoplasia in all forms of albinism depends on the extracellular DOPA level during embryogenesis, and that in OA1 postnatal normalisation of the extracellular DOPA level due to delayed distribution and membrane budding/fusion of melanosomes in melanocytes results in increasing pigmentation.  (+info)

Clinical and ocular motor analysis of the infantile nystagmus syndrome in the first 6 months of life. (8/97)

BACKGROUND/AIMS: The infantile nystagmus syndrome (INS) usually begins in infancy and may or may not be associated with visual sensory system abnormalities. Little is known about its specific waveforms in the first 6 months of life or their relation to the developing visual system. This study identifies the clinical and ocular motility characteristics of the INS and establishes the range of waveforms present in the first 6 months of life. METHODS: 27 infants with involuntary ocular oscillations typical of INS are included in this analysis. They were evaluated both clinically and with motility recordings. Eye movement analysis was performed off line from computer analysis of digitised data. Variables analysed included age, sex, vision, ocular abnormalities, head position, and null zone, neutral zone characteristics, symmetry, conjugacy, waveforms, frequencies, and foveation times. RESULTS: Ages ranged from 3 to 6.5 months (average 4.9 months). 15 patients (56%) had abnormal vision for age, nine (33%) had strabismus, five (19%) had an anomalous head posture, 13 (48%) had oculographic null and neutral positions, nine (33%) had binocular asymmetry, and only two showed consistent dysconjugacy. Average binocular frequency was 3.3 Hz, monocular frequency 6.6 Hz. Average foveation periods were longer and more "jerk" wave forms were observed in those patients with normal vision. CONCLUSIONS: Common clinical characteristics and eye movement waveforms of INS begin in the first few months of infancy and waveform analysis at this time may help with both diagnosis and visual status.  (+info)

Pathological nystagmus is an abnormal, involuntary movement of the eyes that can occur in various directions (horizontal, vertical, or rotatory) and can be rhythmical or arrhythmic. It is typically a result of a disturbance in the vestibular system, central nervous system, or ocular motor pathways. Pathological nystagmus can cause visual symptoms such as blurred vision, difficulty with fixation, and oscillopsia (the sensation that one's surroundings are moving). The type, direction, and intensity of the nystagmus may vary depending on the underlying cause, which can include conditions such as brainstem or cerebellar lesions, multiple sclerosis, drug toxicity, inner ear disorders, and congenital abnormalities.

Congenital nystagmus is a type of involuntary eye movement that is present at birth or develops within the first few months of life. It is characterized by rhythmic oscillations or repetitive, rapid movements of the eyes in either horizontal, vertical, or rotatory directions. These movements can impair vision and may be associated with other ocular conditions such as albinism, congenital cataracts, or optic nerve hypoplasia. The exact cause of congenital nystagmus is not fully understood, but it is believed to result from abnormal development or dysfunction in the areas of the brain that control eye movements. In some cases, congenital nystagmus may be inherited as a genetic trait. Treatment options for congenital nystagmus include corrective lenses, prism glasses, surgery, and vision therapy, depending on the underlying cause and severity of the condition.

Physiologic nystagmus is a type of normal, involuntary eye movement that occurs in certain situations. It is characterized by rhythmical to-and-fro movements of the eyes, which can be horizontal, vertical, or rotatory. The most common form of physiologic nystagmus is called "optokinetic nystagmus," which occurs when a person looks at a moving pattern, such as stripes on a rotating drum or scenery passing by a car window.

Optokinetic nystagmus helps to stabilize the image of the environment on the retina and allows the brain to perceive motion accurately. Another form of physiologic nystagmus is "pursuit nystagmus," which occurs when the eyes attempt to follow a slowly moving target. In this case, the eyes may overshoot the target and then make a corrective movement in the opposite direction.

Physiologic nystagmus is different from pathological nystagmus, which can be caused by various medical conditions such as brain damage, inner ear disorders, or medications that affect the nervous system. Pathological nystagmus may indicate a serious underlying condition and should be evaluated by a healthcare professional.

Optokinetic nystagmus (OKN) is a type of involuntary eye movement that occurs in response to large moving visual patterns. It serves as a mechanism for stabilizing the image on the retina during head movement and helps in maintaining visual fixation.

In OKN, there are two phases of eye movement: a slow phase where the eyes follow or track the moving pattern, and a fast phase where the eyes quickly reset to the starting position. This results in a back-and-forth or "to-and-fro" motion of the eyes.

Optokinetic nystagmus can be elicited by observing a large moving object or a series of alternating visual stimuli, such as stripes on a rotating drum. It is often used in clinical settings to assess various aspects of the visual system, including oculomotor function and visual acuity.

Abnormalities in OKN can indicate problems with the vestibular system, brainstem, or cerebellum, and may be associated with conditions such as brain injury, multiple sclerosis, or cerebral palsy.

Electronystagmography (ENG) is a medical test used to assess the function of the vestibular system, which is responsible for maintaining balance and eye movements. This test measures involuntary eye movements, called nystagmus, which can be indicative of various conditions affecting the inner ear or brainstem.

During the ENG test, electrodes are placed around the eyes to record eye movements while the patient undergoes a series of stimuli, such as changes in head position, visual stimuli, and caloric irrigations (where warm or cool water is introduced into the ear canal to stimulate the inner ear). The recorded data is then analyzed to evaluate the function of the vestibular system and identify any abnormalities.

ENG testing can help diagnose conditions such as vestibular neuritis, labyrinthitis, benign paroxysmal positional vertigo (BPPV), Meniere's disease, and other balance disorders. It is also used to assess the effectiveness of various treatments for these conditions.

Electrooculography (EOG) is a technique for measuring the resting potential of the eye and the changes in this potential that occur with eye movements. It involves placing electrodes near the eyes to detect the small electric fields generated by the movement of the eyeball within the surrounding socket. This technique is used in research and clinical settings to study eye movements and their control, as well as in certain diagnostic applications such as assessing the function of the oculomotor system in patients with neurological disorders.

Eye movements, also known as ocular motility, refer to the voluntary or involuntary motion of the eyes that allows for visual exploration of our environment. There are several types of eye movements, including:

1. Saccades: rapid, ballistic movements that quickly shift the gaze from one point to another.
2. Pursuits: smooth, slow movements that allow the eyes to follow a moving object.
3. Vergences: coordinated movements of both eyes in opposite directions, usually in response to a three-dimensional stimulus.
4. Vestibulo-ocular reflex (VOR): automatic eye movements that help stabilize the gaze during head movement.
5. Optokinetic nystagmus (OKN): rhythmic eye movements that occur in response to large moving visual patterns, such as when looking out of a moving vehicle.

Abnormalities in eye movements can indicate neurological or ophthalmological disorders and are often assessed during clinical examinations.

Ocular albinism is a type of albinism that primarily affects the eyes. It is a genetic disorder characterized by the reduction or absence of melanin, the pigment responsible for coloring the skin, hair, and eyes. In ocular albinism, melanin production is deficient in the eyes, leading to various eye abnormalities.

The main features of ocular albinism include:

1. Nystagmus: Rapid, involuntary back-and-forth movement of the eyes.
2. Iris transillumination: The iris appears translucent due to the lack of pigment, allowing light to pass through easily. This can be observed using a light source shone into the eye.
3. Foveal hypoplasia: Underdevelopment or absence of the fovea, a small pit in the retina responsible for sharp, central vision.
4. Photophobia: Increased sensitivity to light due to the lack of pigment in the eyes.
5. Strabismus: Misalignment of the eyes, which can result in double vision or lazy eye.
6. Reduced visual acuity: Decreased ability to see clearly, even with corrective lenses.

Ocular albinism is typically inherited as an X-linked recessive trait, meaning it primarily affects males, while females can be carriers of the condition. However, there are also autosomal recessive forms of ocular albinism that can affect both males and females equally. Treatment for ocular albinism usually involves managing symptoms with corrective lenses, low-vision aids, and vision therapy to improve visual skills.

Caloric tests are a type of diagnostic test used in otology and neurotology to evaluate the function of the vestibular system, which is responsible for maintaining balance and eye movements. The tests involve stimulating the vestibular system with warm or cool air or water, and then observing and measuring the resulting eye movements.

During the test, the patient sits in a chair with their head tilted back at a 30-degree angle. A special goggles device is placed over their eyes to measure and record eye movements. Then, warm or cool air or water is introduced into each ear canal, alternately, for about 20-30 seconds.

The stimulation of the inner ear with warm or cold temperatures creates a difference in temperature between the inner ear and the brain, which activates the vestibular system and causes eye movements called nystagmus. The direction and intensity of the nystagmus are then analyzed to determine if there is any damage or dysfunction in the vestibular system.

Caloric tests can help identify lesions in the vestibular system, such as vestibular neuritis or labyrinthitis, and can also help differentiate between peripheral and central vestibular disorders.

Vertigo is a specific type of dizziness characterized by the sensation that you or your surroundings are spinning or moving, even when you're perfectly still. It's often caused by issues with the inner ear or the balance-sensing systems of the body. Vertigo can be brought on by various conditions, such as benign paroxysmal positional vertigo (BPPV), labyrinthitis, vestibular neuritis, Meniere's disease, and migraines. In some cases, vertigo may also result from head or neck injuries, brain disorders like stroke or tumors, or certain medications. Treatment for vertigo depends on the underlying cause and can include specific exercises, medication, or surgery in severe cases.

Vestibular neuronitis, also known as vestibular neuritis, is a medical condition that affects the inner ear's vestibular system. It is characterized by sudden and severe vertigo (a spinning sensation), nausea, vomiting, and unsteadiness, typically lasting for several days to weeks.

The condition results from an inflammation of the vestibular nerve, which carries information about balance and motion from the inner ear to the brain. The exact cause of the inflammation is not always clear, but it is thought to be due to a viral infection or an autoimmune response.

Vestibular neuronitis is differentiated from labyrinthitis, another inner ear disorder, by the absence of hearing loss in vestibular neuronitis. In labyrinthitis, there may be hearing loss as well as vertigo and balance problems. Treatment for vestibular neuronitis typically involves medication to manage symptoms such as nausea and vertigo, along with physical therapy exercises to help retrain the brain to maintain balance.

Vestibular function tests are a series of diagnostic assessments used to determine the functionality and health of the vestibular system, which is responsible for maintaining balance and spatial orientation. These tests typically include:

1. **Caloric Testing:** This test evaluates the response of each ear to stimulation with warm and cold water or air. The resulting responses are recorded and analyzed to assess the function of the horizontal semicircular canals and the vestibular-ocular reflex (VOR).

2. **Rotary Chair Testing:** This test measures how well the vestibular system adapts to different speeds of rotation. The patient sits in a chair that moves in a controlled, consistent manner while their eye movements are recorded.

3. **Videonystagmography (VNG):** This test uses video goggles to record eye movements in response to various stimuli, such as changes in head position, temperature, and visual environment.

4. **Electronystagmography (ENG):** Similar to VNG, this test records eye movements but uses electrodes placed near the eyes instead of video goggles.

5. **Dix-Hallpike Test:** This is a clinical maneuver used to diagnose benign paroxysmal positional vertigo (BPPV). It involves rapidly moving the patient's head from an upright position to a position where their head is hanging off the end of the examination table.

6. **Head Shaking Test:** This test involves shaking the head back and forth for 15-20 seconds and then observing the patient's eye movements for nystagmus (involuntary eye movement).

These tests help diagnose various vestibular disorders, including benign paroxysmal positional vertigo, labyrinthitis, vestibular neuritis, Meniere's disease, and other balance disorders.

The semicircular canals are part of the vestibular system in the inner ear that contributes to the sense of balance and spatial orientation. They are composed of three fluid-filled tubes, each located in a different plane (anterior, posterior, and horizontal) and arranged at approximately right angles to each other. The semicircular canals detect rotational movements of the head, enabling us to maintain our equilibrium during movement.

When the head moves, the fluid within the semicircular canals moves in response to that motion. At the end of each canal is a structure called the ampulla, which contains hair cells with hair-like projections (stereocilia) embedded in a gelatinous substance. As the fluid moves, it bends the stereocilia, stimulating the hair cells and sending signals to the brain via the vestibular nerve. The brain then interprets these signals to determine the direction and speed of head movement, allowing us to maintain our balance and orientation in space.

X-linked genetic diseases refer to a group of disorders caused by mutations in genes located on the X chromosome. These conditions primarily affect males since they have only one X chromosome and therefore don't have a second normal copy of the gene to compensate for the mutated one. Females, who have two X chromosomes, are typically less affected because they usually have one normal copy of the gene on their other X chromosome.

Examples of X-linked genetic diseases include Duchenne and Becker muscular dystrophy, hemophilia A and B, color blindness, and fragile X syndrome. Symptoms and severity can vary widely depending on the specific condition and the nature of the genetic mutation involved. Treatment options depend on the particular disease but may include physical therapy, medication, or in some cases, gene therapy.

A vestibulo-ocular reflex (VOR) is a automatic motion of the eyes that helps to stabilize images on the retina during head movement. It is mediated by the vestibular system, which includes the semicircular canals and otolith organs in the inner ear.

When the head moves, the movement is detected by the vestibular system, which sends signals to the oculomotor nuclei in the brainstem. These nuclei then generate an eye movement that is equal and opposite to the head movement, allowing the eyes to remain fixed on a target while the head is moving. This reflex helps to maintain visual stability during head movements and is essential for activities such as reading, walking, and driving.

The VOR can be tested clinically by having the patient follow a target with their eyes while their head is moved passively. If the VOR is functioning properly, the eyes should remain fixed on the target despite the head movement. Abnormalities in the VOR can indicate problems with the vestibular system or the brainstem.

Ocular motility disorders refer to a group of conditions that affect the movement of the eyes. These disorders can result from nerve damage, muscle dysfunction, or brain injuries. They can cause abnormal eye alignment, limited range of motion, and difficulty coordinating eye movements. Common symptoms include double vision, blurry vision, strabismus (crossed eyes), nystagmus (involuntary eye movement), and difficulty tracking moving objects. Ocular motility disorders can be congenital or acquired and may require medical intervention to correct or manage the condition.

Strabismus is a condition of the ocular muscles where the eyes are not aligned properly and point in different directions. One eye may turn inward, outward, upward, or downward while the other one remains fixed and aligns normally. This misalignment can occur occasionally or constantly. Strabismus is also commonly referred to as crossed eyes or walleye. The condition can lead to visual impairments such as amblyopia (lazy eye) and depth perception problems if not treated promptly and effectively, usually through surgery, glasses, or vision therapy.

The vestibular system is a part of the inner ear that contributes to our sense of balance and spatial orientation. It is made up of two main components: the vestibule and the labyrinth.

The vestibule is a bony chamber in the inner ear that contains two important structures called the utricle and saccule. These structures contain hair cells and fluid-filled sacs that help detect changes in head position and movement, allowing us to maintain our balance and orientation in space.

The labyrinth, on the other hand, is a more complex structure that includes the vestibule as well as three semicircular canals. These canals are also filled with fluid and contain hair cells that detect rotational movements of the head. Together, the vestibule and labyrinth work together to provide us with information about our body's position and movement in space.

Overall, the vestibular system plays a crucial role in maintaining our balance, coordinating our movements, and helping us navigate through our environment.

Vestibular diseases are a group of disorders that affect the vestibular system, which is responsible for maintaining balance and spatial orientation. The vestibular system includes the inner ear and parts of the brain that process sensory information related to movement and position.

These diseases can cause symptoms such as vertigo (a spinning sensation), dizziness, imbalance, nausea, and visual disturbances. Examples of vestibular diseases include:

1. Benign paroxysmal positional vertigo (BPPV): a condition in which small crystals in the inner ear become dislodged and cause brief episodes of vertigo triggered by changes in head position.
2. Labyrinthitis: an inner ear infection that can cause sudden onset of vertigo, hearing loss, and tinnitus (ringing in the ears).
3. Vestibular neuronitis: inflammation of the vestibular nerve that causes severe vertigo, nausea, and imbalance but typically spares hearing.
4. Meniere's disease: a disorder characterized by recurrent episodes of vertigo, tinnitus, hearing loss, and a feeling of fullness in the affected ear.
5. Vestibular migraine: a type of migraine that includes vestibular symptoms such as dizziness, imbalance, and disorientation.
6. Superior canal dehiscence syndrome: a condition in which there is a thinning or absence of bone over the superior semicircular canal in the inner ear, leading to vertigo, sound- or pressure-induced dizziness, and hearing loss.
7. Bilateral vestibular hypofunction: reduced function of both vestibular systems, causing chronic imbalance, unsteadiness, and visual disturbances.

Treatment for vestibular diseases varies depending on the specific diagnosis but may include medication, physical therapy, surgery, or a combination of these approaches.

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.

Oculocutaneous albinism (OCA) is a group of genetic disorders characterized by reduced or complete absence of melanin pigment in the eyes, skin, and hair. Melanin is the pigment responsible for giving color to our skin, hair, and eyes. OCA affects both the eyes (oculo-) and the skin (cutaneous), hence the name oculocutaneous albinism.

There are several types of OCA, each caused by different genetic mutations affecting melanin production. The most common forms include:

1. OCA1: This type is further divided into two subtypes - OCA1A and OCA1B. OCA1A is characterized by complete absence of melanin in the eyes, skin, and hair from birth. Individuals with this condition have white hair, very light skin, and pale blue or gray irises. OCA1B, on the other hand, presents with reduced melanin production, leading to lighter-than-average skin, hair, and eye color at birth. Over time, some melanin may be produced, resulting in milder pigmentation changes compared to OCA1A.
2. OCA2: This form of albinism is caused by mutations in the tyrosinase-related protein 1 (TYRP1) gene, which plays a role in melanin production. Individuals with OCA2 typically have light brown or yellowish skin, golden or straw-colored hair, and lighter irises compared to their family members without albinism.
3. OCA3: Also known as Rufous oculocutaneous albinism (ROCA), this type is caused by mutations in the tyrosinase gene (TYR). It primarily affects people of African descent, leading to reddish-brown hair, light brown skin, and normal or near-normal eye color.
4. OCA4: This form of albinism results from mutations in the membrane-associated transporter protein (MATP) gene, which is involved in melanin transport within cells. Individuals with OCA4 usually have light brown skin, yellowish or blond hair, and lighter irises compared to their family members without albinism.

Regardless of the type, all individuals with oculocutaneous albinism face similar challenges, including reduced vision due to abnormal eye development (nystagmus, strabismus, and farsightedness) and increased sensitivity to sunlight (photophobia). Proper management, such as wearing UV-protective sunglasses, hats, and sunscreen, can help protect their skin and eyes from damage.

Cerebellar diseases refer to a group of medical conditions that affect the cerebellum, which is the part of the brain located at the back of the head, below the occipital lobe and above the brainstem. The cerebellum plays a crucial role in motor control, coordination, balance, and some cognitive functions.

Cerebellar diseases can be caused by various factors, including genetics, infections, tumors, stroke, trauma, or degenerative processes. These conditions can result in a wide range of symptoms, such as:

1. Ataxia: Loss of coordination and unsteady gait
2. Dysmetria: Inability to judge distance and force while performing movements
3. Intention tremors: Shaking or trembling that worsens during purposeful movements
4. Nystagmus: Rapid, involuntary eye movement
5. Dysarthria: Speech difficulty due to muscle weakness or incoordination
6. Hypotonia: Decreased muscle tone
7. Titubation: Rhythmic, involuntary oscillations of the head and neck
8. Cognitive impairment: Problems with memory, attention, and executive functions

Some examples of cerebellar diseases include:

1. Ataxia-telangiectasia
2. Friedrich's ataxia
3. Multiple system atrophy (MSA)
4. Spinocerebellar ataxias (SCAs)
5. Cerebellar tumors, such as medulloblastomas or astrocytomas
6. Infarctions or hemorrhages in the cerebellum due to stroke or trauma
7. Infections, such as viral encephalitis or bacterial meningitis
8. Autoimmune disorders, like multiple sclerosis (MS) or paraneoplastic syndromes
9. Metabolic disorders, such as Wilson's disease or phenylketonuria (PKU)
10. Chronic alcoholism and withdrawal

Treatment for cerebellar diseases depends on the underlying cause and may involve medications, physical therapy, surgery, or supportive care to manage symptoms and improve quality of life.

The oculomotor muscles are a group of extraocular muscles that control the movements of the eye. They include:

1. Superior rectus: This muscle is responsible for elevating the eye and helping with inward rotation (intorsion) when looking downwards.
2. Inferior rectus: It depresses the eye and helps with outward rotation (extorsion) when looking upwards.
3. Medial rectus: This muscle adducts, or moves, the eye towards the midline of the face.
4. Inferior oblique: The inferior oblique muscle intorts and elevates the eye.
5. Superior oblique: It extorts and depresses the eye.

These muscles work together to allow for smooth and precise movements of the eyes, enabling tasks such as tracking moving objects, reading, and maintaining visual fixation on a single point in space.

The otolithic membrane is a part of the inner ear's vestibular system, which contributes to our sense of balance and spatial orientation. It is composed of a gelatinous material containing tiny calcium carbonate crystals called otoconia or otoliths. These crystals provide weight to the membrane, allowing it to detect linear acceleration and gravity-induced head movements.

There are two otolithic membranes in each inner ear, located within the utricle and saccule, two of the three main vestibular organs. The utricle is primarily responsible for detecting horizontal movement and head tilts, while the saccule senses vertical motion and linear acceleration.

Damage to the otolithic membrane can result in balance disorders, vertigo, or dizziness.

Ocular fixation is a term used in ophthalmology and optometry to refer to the ability of the eyes to maintain steady gaze or visual focus on an object. It involves the coordinated movement of the extraocular muscles that control eye movements, allowing for clear and stable vision.

In medical terminology, fixation specifically refers to the state in which the eyes are aligned and focused on a single point in space. This is important for maintaining visual perception and preventing blurring or double vision. Ocular fixation can be affected by various factors such as muscle weakness, nerve damage, or visual processing disorders.

Assessment of ocular fixation is often used in eye examinations to evaluate visual acuity, eye alignment, and muscle function. Abnormalities in fixation may indicate the presence of underlying eye conditions or developmental delays that require further investigation and treatment.

A "torsion abnormality" is not a standard medical term, but I believe you are asking about torsional deformities or abnormalities related to torsion. Torsion refers to a twisting force or movement that can cause structures to rotate around their long axis. In the context of medical definitions:

Torsional abnormality could refer to a congenital or acquired condition where anatomical structures, such as blood vessels, muscles, tendons, or bones, are twisted or rotated in an abnormal way. This can lead to various complications depending on the structure involved and the degree of torsion.

For instance, in congenital torsional deformities of long bones (like tibia or femur), the rotation of the bone axis can cause issues with gait, posture, and joint function. In some cases, this may require surgical intervention to correct the abnormality.

In the context of vascular torsion abnormalities, such as mesenteric torsion, it could lead to bowel ischemia due to the twisting of blood vessels that supply the intestines. This can be a surgical emergency and requires immediate intervention to restore blood flow and prevent further damage.

It's essential to consult with a medical professional for a precise diagnosis and treatment options if you or someone else experiences symptoms related to torsional abnormalities.

The vestibular nuclei are clusters of neurons located in the brainstem that receive and process information from the vestibular system, which is responsible for maintaining balance and spatial orientation. The vestibular nuclei help to coordinate movements of the eyes, head, and body in response to changes in position or movement. They also play a role in reflexes that help to maintain posture and stabilize vision during head movement. There are four main vestibular nuclei: the medial, lateral, superior, and inferior vestibular nuclei.

Labyrinth diseases refer to conditions that affect the inner ear's labyrinth, which is the complex system of fluid-filled channels and sacs responsible for maintaining balance and hearing. These diseases can cause symptoms such as vertigo (a spinning sensation), dizziness, nausea, hearing loss, and tinnitus (ringing in the ears). Examples of labyrinth diseases include Meniere's disease, labyrinthitis, vestibular neuronitis, and benign paroxysmal positional vertigo. Treatment for these conditions varies depending on the specific diagnosis but may include medications, physical therapy, or surgery.

Esotropia is a type of ocular misalignment, also known as strabismus, in which one eye turns inward toward the nose. This condition can be constant or intermittent and may result in double vision or loss of depth perception. Esotropia is often classified based on its cause, age of onset, and frequency. Common forms include congenital esotropia, acquired esotropia, and accommodative esotropia. Treatment typically involves corrective eyewear, eye exercises, or surgery to realign the eyes.

Binocular vision refers to the ability to use both eyes together to create a single, three-dimensional image of our surroundings. This is achieved through a process called binocular fusion, where the images from each eye are aligned and combined in the brain to form a unified perception.

The term "binocular vision" specifically refers to the way that our visual system integrates information from both eyes to create depth perception and enhance visual clarity. When we view an object with both eyes, they focus on the same point in space and send slightly different images to the brain due to their slightly different positions. The brain then combines these images to create a single, three-dimensional image that allows us to perceive depth and distance.

Binocular vision is important for many everyday activities, such as driving, reading, and playing sports. Disorders of binocular vision can lead to symptoms such as double vision, eye strain, and difficulty with depth perception.

Monocular vision refers to the ability to see and process visual information using only one eye. It is the type of vision that an individual has when they are using only one eye to look at something, while the other eye may be covered or not functioning. This can be contrasted with binocular vision, which involves the use of both eyes working together to provide depth perception and a single, combined visual field.

Monocular vision is important for tasks that only require the use of one eye, such as when looking through a microscope or using a telescope. However, it does not provide the same level of depth perception and spatial awareness as binocular vision. In some cases, individuals may have reduced visual acuity or other visual impairments in one eye, leading to limited monocular vision in that eye. It is important for individuals with monocular vision to have regular eye exams to monitor their eye health and ensure that any visual impairments are detected and treated promptly.

In medical terms, the "head" is the uppermost part of the human body that contains the brain, skull, face, eyes, nose, mouth, and ears. It is connected to the rest of the body by the neck and is responsible for many vital functions such as sight, hearing, smell, taste, touch, and thought processing. The head also plays a crucial role in maintaining balance, speech, and eating.

The fovea centralis, also known as the macula lutea, is a small pit or depression located in the center of the retina, an light-sensitive tissue at the back of the eye. It is responsible for sharp, detailed vision (central vision) and color perception. The fovea contains only cones, the photoreceptor cells that are responsible for color vision and high visual acuity. It has a higher concentration of cones than any other area in the retina, allowing it to provide the greatest detail and color discrimination. The center of the fovea is called the foveola, which contains the highest density of cones and is avascular, meaning it lacks blood vessels to avoid interfering with the light passing through to the photoreceptor cells.

Cerebellar ataxia is a type of ataxia, which refers to a group of disorders that cause difficulties with coordination and movement. Cerebellar ataxia specifically involves the cerebellum, which is the part of the brain responsible for maintaining balance, coordinating muscle movements, and regulating speech and eye movements.

The symptoms of cerebellar ataxia may include:

* Unsteady gait or difficulty walking
* Poor coordination of limb movements
* Tremors or shakiness, especially in the hands
* Slurred or irregular speech
* Abnormal eye movements, such as nystagmus (rapid, involuntary movement of the eyes)
* Difficulty with fine motor tasks, such as writing or buttoning a shirt

Cerebellar ataxia can be caused by a variety of underlying conditions, including:

* Genetic disorders, such as spinocerebellar ataxia or Friedreich's ataxia
* Brain injury or trauma
* Stroke or brain hemorrhage
* Infections, such as meningitis or encephalitis
* Exposure to toxins, such as alcohol or certain medications
* Tumors or other growths in the brain

Treatment for cerebellar ataxia depends on the underlying cause. In some cases, there may be no cure, and treatment is focused on managing symptoms and improving quality of life. Physical therapy, occupational therapy, and speech therapy can help improve coordination, balance, and communication skills. Medications may also be used to treat specific symptoms, such as tremors or muscle spasticity. In some cases, surgery may be recommended to remove tumors or repair damage to the brain.

Aniridia is a genetic condition that affects the development of the eye. The most notable feature of aniridia is the partial or complete absence of the colored part of the eye, called the iris. This gives the appearance of a larger than normal pupil and can lead to sensitivity to light (photophobia). Aniridia is usually present at birth and can affect one or both eyes.

The condition is caused by mutations in the PAX6 gene, which plays a crucial role in the early development of the eye. In addition to the iris abnormalities, people with aniridia may also have other eye problems such as cloudy corneas, cataracts, glaucoma, and degeneration of the retina. These complications can lead to decreased vision or blindness if not properly managed.

Aniridia is typically inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the condition if one parent has it. However, approximately two-thirds of aniridia cases are sporadic, occurring due to new mutations in the PAX6 gene and not inherited from a parent.

It is essential to monitor and manage aniridia-related complications through regular eye examinations and appropriate treatments to preserve vision as much as possible. Some individuals with aniridia may also benefit from low-vision aids, such as magnifiers or telescopic lenses, to help maximize their remaining visual function.

Eye movement measurements, also known as oculometry, refer to the measurement and analysis of eye movements. This can include assessing the direction, speed, range, and patterns of eye movement. These measurements are often used in research and clinical settings to understand various aspects of vision, perception, and cognition. They can be used to diagnose and monitor conditions that affect eye movement, such as strabismus (crossed eyes), amblyopia (lazy eye), or neurological disorders. Additionally, eye movement measurements are also used in areas such as human-computer interaction, marketing research, and virtual reality to understand how individuals interact with their environment.

Dizziness is a term used to describe a range of sensations, such as feeling lightheaded, faint, unsteady, or a false sense of spinning or moving. Medically, dizziness is often described as a non-specific symptom that can be caused by various underlying conditions or factors. These may include:

1. Inner ear disorders (such as benign paroxysmal positional vertigo, labyrinthitis, vestibular neuronitis, or Meniere's disease)
2. Cardiovascular problems (like low blood pressure, arrhythmias, or orthostatic hypotension)
3. Neurological issues (such as migraines, multiple sclerosis, or stroke)
4. Anxiety disorders and panic attacks
5. Side effects of medications
6. Dehydration or overheating
7. Infections (like viral infections or bacterial meningitis)
8. Head or neck injuries
9. Low blood sugar levels (hypoglycemia)

It is essential to consult a healthcare professional if you experience persistent dizziness, as it can be a sign of a more severe underlying condition. The appropriate treatment will depend on the specific cause of the dizziness.

Albinism is a group of genetic disorders that result in little or no production of melanin, the pigment responsible for coloring skin, hair, and eyes. It is caused by mutations in genes involved in the production of melanin. There are several types of albinism, including oculocutaneous albinism (OCA) and ocular albinism (OA). OCA affects the skin, hair, and eyes, while OA primarily affects the eyes.

People with albinism typically have very pale skin, white or light-colored hair, and light-colored eyes. They may also have vision problems, such as sensitivity to light (photophobia), rapid eye movements (nystagmus), and decreased visual acuity. The severity of these symptoms can vary depending on the type and extent of albinism.

Albinism is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene, one from each parent, in order to have the condition. If both parents are carriers of a mutated gene for albinism, they have a 25% chance with each pregnancy of having a child with albinism.

There is no cure for albinism, but individuals with the condition can take steps to protect their skin and eyes from the sun and use visual aids to help with vision problems. It is important for people with albinism to undergo regular eye examinations and to use sun protection, such as sunscreen, hats, and sunglasses, to prevent skin damage and skin cancer.

Vision tests are a series of procedures used to assess various aspects of the visual system, including visual acuity, accommodation, convergence, divergence, stereopsis, color vision, and peripheral vision. These tests help healthcare professionals diagnose and manage vision disorders, such as nearsightedness, farsightedness, astigmatism, amblyopia, strabismus, and eye diseases like glaucoma, cataracts, and macular degeneration. Common vision tests include:

1. Visual acuity test (Snellen chart or letter chart): Measures the sharpness of a person's vision at different distances.
2. Refraction test: Determines the correct lens prescription for glasses or contact lenses by assessing how light is bent as it passes through the eye.
3. Color vision test: Evaluates the ability to distinguish between different colors and color combinations, often using pseudoisochromatic plates or Ishihara tests.
4. Stereopsis test: Assesses depth perception and binocular vision by presenting separate images to each eye that, when combined, create a three-dimensional effect.
5. Cover test: Examines eye alignment and the presence of strabismus (crossed eyes or turned eyes) by covering and uncovering each eye while observing eye movements.
6. Ocular motility test: Assesses the ability to move the eyes in various directions and coordinate both eyes during tracking and convergence/divergence movements.
7. Accommodation test: Evaluates the ability to focus on objects at different distances by using lenses, prisms, or dynamic retinoscopy.
8. Pupillary response test: Examines the size and reaction of the pupils to light and near objects.
9. Visual field test: Measures the peripheral (side) vision using automated perimetry or manual confrontation techniques.
10. Slit-lamp examination: Inspects the structures of the front part of the eye, such as the cornea, iris, lens, and anterior chamber, using a specialized microscope.

These tests are typically performed by optometrists, ophthalmologists, or other vision care professionals during routine eye examinations or when visual symptoms are present.

A saccade is a quick, rapid, and ballistic conjugate eye movement that shifts the point of fixation from one target to another. It helps in rapidly repositioning the fovea (the central part of the retina with the highest visual acuity) to focus on different targets of interest in the visual scene. Saccades are essential for efficient scanning and exploration of our environment, allowing us to direct our high-resolution vision towards various points of interest. They typically take only about 20-200 milliseconds to complete and can reach peak velocities of up to 500 degrees per second or more, depending on the amplitude of the movement. Saccades are a critical component of normal visual function and are often studied in fields such as ophthalmology, neurology, and neuroscience.

Biperiden is an anticholinergic drug, which is primarily used to treat symptoms of Parkinson's disease such as stiffness, tremors, spasms, and poor muscle control. It works by blocking the action of a certain natural substance (acetylcholine) in the body. Biperiden can also be used to treat related conditions such as drooling, loss of bladder control, and movement disorders caused by certain medications.

Biperiden may also be used for purposes not listed in its medical product label, as determined by a doctor. It is available in immediate-release and extended-release tablets and oral solution forms. Common side effects include dizziness, drowsiness, dry mouth, blurred vision, and difficulty urinating. Serious side effects are rare but may include hallucinations, irregular heartbeat, and mental/mood changes.

It is important to follow the instructions of a healthcare professional when taking biperiden, as it can interact with other medications and have potentially serious side effects if not used properly.

The oculomotor nerve, also known as the third cranial nerve (CN III), is a motor nerve that originates from the midbrain. It controls the majority of the eye muscles, including the levator palpebrae superioris muscle that raises the upper eyelid, and the extraocular muscles that enable various movements of the eye such as looking upward, downward, inward, and outward. Additionally, it carries parasympathetic fibers responsible for pupillary constriction and accommodation (focusing on near objects). Damage to this nerve can result in various ocular motor disorders, including strabismus, ptosis, and pupillary abnormalities.

Head movements refer to the voluntary or involuntary motion of the head in various directions. These movements can occur in different planes, including flexion (moving the head forward), extension (moving the head backward), rotation (turning the head to the side), and lateral bending (leaning the head to one side).

Head movements can be a result of normal physiological processes, such as when nodding in agreement or shaking the head to indicate disagreement. They can also be caused by neurological conditions, such as abnormal head movements in patients with Parkinson's disease or cerebellar disorders. Additionally, head movements may occur in response to sensory stimuli, such as turning the head toward a sound.

In a medical context, an examination of head movements can provide important clues about a person's neurological function and help diagnose various conditions affecting the brain and nervous system.

Ocular convergence is the normal, inward movement of both eyes towards each other to focus on a nearby object. This coordinated action allows for single, clear vision (binocular vision) of the object. It is an important component of visual function and is controlled by the brain receiving input from the muscles that move the eyes.

Convergence insufficiency is a common condition where the eyes have difficulty maintaining alignment during close work, such as reading or using a computer. This can result in eye strain, double vision, and difficulty concentrating. Treatment for convergence insufficiency may include vision therapy, exercises to improve convergence ability, and/or the use of prism lenses.

In the context of medical terminology, I believe you may be referring to "pursuit" as it relates to neurological tests. A smooth pursuit is a type of eye movement in which the eyes smoothly and slowly follow a moving object. It requires coordination between the extraocular muscles, vestibular system, and visual system. If there are issues with any of these systems, smooth pursuit can be affected, leading to abnormalities such as jerky or saccadic movements.

Therefore, "smooth pursuit" is a medical term used to describe the normal, coordinated movement of the eyes that allows for the tracking of moving objects in a smooth and continuous manner.

Ear diseases are medical conditions that affect the ear and its various components, including the outer ear, middle ear, and inner ear. These diseases can cause a range of symptoms, such as hearing loss, tinnitus (ringing in the ears), vertigo (dizziness), ear pain, and discharge. Some common ear diseases include:

1. Otitis externa (swimmer's ear) - an infection or inflammation of the outer ear and ear canal.
2. Otitis media - an infection or inflammation of the middle ear, often caused by a cold or flu.
3. Cholesteatoma - a skin growth that develops in the middle ear behind the eardrum.
4. Meniere's disease - a disorder of the inner ear that can cause vertigo, hearing loss, and tinnitus.
5. Temporomandibular joint (TMJ) disorders - problems with the joint that connects the jawbone to the skull, which can cause ear pain and other symptoms.
6. Acoustic neuroma - a noncancerous tumor that grows on the nerve that connects the inner ear to the brain.
7. Presbycusis - age-related hearing loss.

Treatment for ear diseases varies depending on the specific condition and its severity. It may include medication, surgery, or other therapies. If you are experiencing symptoms of an ear disease, it is important to seek medical attention from a healthcare professional, such as an otolaryngologist (ear, nose, and throat specialist).

Menière disease is an inner ear disorder that is characterized by episodes of vertigo (a spinning sensation), tinnitus (ringing or buzzing in the ear), hearing loss, and aural fullness (a feeling of pressure or blockage in the ear). It is caused by an abnormal accumulation of endolymphatic fluid in the inner ear, which can lead to damage of the vestibular system and cochlea. The exact cause of this fluid buildup is not known, but it may be related to genetics, allergies, or autoimmune disorders. Menière disease is typically a chronic condition, with symptoms that can vary in frequency and severity over time. Treatment options include dietary modifications, diuretics, vestibular rehabilitation therapy, and, in some cases, surgery.

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.

In the context of medicine, particularly in anatomy and physiology, "rotation" refers to the movement of a body part around its own axis or the long axis of another structure. This type of motion is three-dimensional and can occur in various planes. A common example of rotation is the movement of the forearm bones (radius and ulna) around each other during pronation and supination, which allows the hand to be turned palm up or down. Another example is the rotation of the head during mastication (chewing), where the mandible moves in a circular motion around the temporomandibular joint.

Lithiasis is a medical term that refers to the formation of stones or calculi in various organs of the body. These stones can develop in the kidneys (nephrolithiasis), gallbladder (cholelithiasis), urinary bladder (cystolithiasis), or salivary glands (sialolithiasis). The stones are usually composed of minerals and organic substances, and their formation can be influenced by various factors such as diet, dehydration, genetic predisposition, and chronic inflammation. Lithiasis can cause a range of symptoms depending on the location and size of the stone, including pain, obstruction, infection, and damage to surrounding tissues. Treatment may involve medication, shock wave lithotripsy, or surgical removal of the stones.

Tympanic membrane perforation, also known as a ruptured eardrum, is a tear or hole in the tympanic membrane, which separates the outer ear canal and the middle ear. The tympanic membrane plays a crucial role in hearing by transmitting sound vibrations from the outer ear to the inner ear. A perforation can result from various causes such as infection, trauma, pressure changes, or explosive blasts, leading to symptoms like hearing loss, tinnitus, vertigo, and ear discharge. The extent and location of the perforation determine the severity of the symptoms and the course of treatment, which may include observation, antibiotics, or surgical repair.

Hypopigmentation is a medical term that refers to a condition where there is a decrease in the amount of pigment (melanin) in the skin, resulting in lighter patches or spots on the skin. This can occur due to various reasons such as skin injuries, certain skin disorders like vitiligo, fungal infections, burns, or as a side effect of some medical treatments like chemotherapy or radiation therapy. It is different from albinism, which is a genetic condition where the body is unable to produce melanin at all.

Cyclohexanecarboxylic acids are a type of organic compound that consists of a cyclohexane ring, which is a six-carbon saturated hydrocarbon, substituted with a carboxylic acid group (-COOH). This group contains a carbon atom double bonded to an oxygen atom and single bonded to a hydroxyl group (-OH).

The cyclohexane ring can be in various forms, including the chair, boat, or twist-boat conformations, depending on the orientation of its constituent atoms. The carboxylic acid group can ionize to form a carboxylate anion, which is negatively charged and has a deprotonated hydroxyl group.

Cyclohexanecarboxylic acids have various applications in industry and research, including as intermediates in the synthesis of other chemicals, solvents, and pharmaceuticals. They can also be found naturally in some plants and microorganisms.

The uvula is a small, conical piece of soft tissue that hangs down from the middle part of the back of the soft palate (the rear-most portion of the roof of the mouth). It contains muscle fibers and mucous glands, and its function is associated with swallowing, speaking, and protecting the airway. During swallowing, the uvula helps to prevent food and liquids from entering the nasal cavity by blocking the opening between the oral and nasal cavities (the nasopharynx). In speech, it plays a role in shaping certain sounds like "a" and "u."

Myoclonus is a medical term that describes a quick, involuntary jerking muscle spasm. These spasms can happen once or repeat in a series, and they can range from mild to severe in nature. Myoclonus can affect any muscle in the body and can be caused by several different conditions, including certain neurological disorders, injuries, or diseases. In some cases, myoclonus may occur without an identifiable cause.

There are various types of myoclonus, classified based on their underlying causes, patterns of occurrence, and associated symptoms. Some common forms include:

1. Action myoclonus: Occurs during voluntary muscle movements
2. Stimulus-sensitive myoclonus: Triggered by external or internal stimuli, such as touch, sound, or light
3. Physiological myoclonus: Normal muscle jerks that occur during sleep onset (hypnic jerks) or during sleep (nocturnal myoclonus)
4. Reflex myoclonus: Result of a reflex arc activation due to a peripheral nerve stimulation
5. Epileptic myoclonus: Part of an epilepsy syndrome, often involving the brainstem or cortex
6. Symptomatic myoclonus: Occurs as a result of an underlying medical condition, such as metabolic disorders, infections, or neurodegenerative diseases

Treatment for myoclonus depends on the specific type and underlying cause. Medications, physical therapy, or lifestyle modifications may be recommended to help manage symptoms and improve quality of life.

Color vision defects, also known as color blindness, are conditions in which a person has difficulty distinguishing between certain colors. The most common types of color vision defects involve the inability to distinguish between red and green or blue and yellow. These deficiencies result from an alteration or absence of one or more of the three types of cone cells in the retina that are responsible for normal color vision.

In red-green color vision defects, there is a problem with either the red or green cones, or both. This results in difficulty distinguishing between these two colors and their shades. Protanopia is a type of red-green color vision defect where there is an absence of red cone cells, making it difficult to distinguish between red and green as well as between red and black or green and black. Deuteranopia is another type of red-green color vision defect where there is an absence of green cone cells, resulting in similar difficulties distinguishing between red and green, as well as between blue and yellow.

Blue-yellow color vision defects are less common than red-green color vision defects. Tritanopia is a type of blue-yellow color vision defect where there is an absence of blue cone cells, making it difficult to distinguish between blue and yellow, as well as between blue and purple or yellow and pink.

Color vision defects are usually inherited and present from birth, but they can also result from eye diseases, chemical exposure, aging, or medication side effects. They affect both men and women, although red-green color vision defects are more common in men than in women. People with color vision defects may have difficulty with tasks that require color discrimination, such as matching clothes, selecting ripe fruit, reading colored maps, or identifying warning signals. However, most people with mild to moderate color vision defects can adapt and function well in daily life.

The brainstem is the lower part of the brain that connects to the spinal cord. It consists of the midbrain, pons, and medulla oblongata. The brainstem controls many vital functions such as heart rate, breathing, and blood pressure. It also serves as a relay center for sensory and motor information between the cerebral cortex and the rest of the body. Additionally, several cranial nerves originate from the brainstem, including those that control eye movements, facial movements, and hearing.

X-linked genes are those genes that are located on the X chromosome. In humans, females have two copies of the X chromosome (XX), while males have one X and one Y chromosome (XY). This means that males have only one copy of each X-linked gene, whereas females have two copies.

X-linked genes are important in medical genetics because they can cause different patterns of inheritance and disease expression between males and females. For example, if a mutation occurs in an X-linked gene, it is more likely to affect males than females because males only have one copy of the gene. This means that even a single mutated copy of the gene can cause the disease in males, while females may be carriers of the mutation and not show any symptoms due to their second normal copy of the gene.

X-linked recessive disorders are more common in males than females because they only have one X chromosome. Examples of X-linked recessive disorders include Duchenne muscular dystrophy, hemophilia, and color blindness. In contrast, X-linked dominant disorders can affect both males and females, but females may have milder symptoms due to their second normal copy of the gene. Examples of X-linked dominant disorders include Rett syndrome and incontinentia pigmenti.

Posture is the position or alignment of body parts supported by the muscles, especially the spine and head in relation to the vertebral column. It can be described as static (related to a stationary position) or dynamic (related to movement). Good posture involves training your body to stand, walk, sit, and lie in positions where the least strain is placed on supporting muscles and ligaments during movement or weight-bearing activities. Poor posture can lead to various health issues such as back pain, neck pain, headaches, and respiratory problems.

The mastoid is a term used in anatomy and refers to the bony prominence located at the base of the skull, posterior to the ear. More specifically, it's part of the temporal bone, one of the bones that forms the side and base of the skull. The mastoid process provides attachment for various muscles involved in chewing and moving the head.

In a medical context, "mastoid" can also refer to conditions or procedures related to this area. For example, mastoiditis is an infection of the mastoid process, while a mastoidectomy is a surgical procedure that involves removing part or all of the mastoid process.

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.

The cerebellar nuclei are clusters of neurons located within the white matter of the cerebellum, a region of the brain responsible for motor coordination, balance, and fine movement regulation. There are four main pairs of cerebellar nuclei: the fastigial, interpositus, dentate, and vestibular nuclei. These nuclei receive input from various parts of the cerebellar cortex and project to different areas of the brainstem and thalamus, contributing to the regulation of muscle tone, posture, and movement.

The optic chiasm is a structure in the brain where the optic nerves from each eye meet and cross. This allows for the integration of visual information from both eyes into the brain's visual cortex, creating a single, combined image of the visual world. The optic chiasm plays an important role in the processing of visual information and helps to facilitate depth perception and other complex visual tasks. Damage to the optic chiasm can result in various visual field deficits, such as bitemporal hemianopsia, where there is a loss of vision in the outer halves (temporal fields) of both eyes' visual fields.

Optic atrophy is a medical term that refers to the degeneration and shrinkage (atrophy) of the optic nerve, which transmits visual information from the eye to the brain. This condition can result in various vision abnormalities, including loss of visual acuity, color vision deficiencies, and peripheral vision loss.

Optic atrophy can occur due to a variety of causes, such as:

* Traumatic injuries to the eye or optic nerve
* Glaucoma
* Optic neuritis (inflammation of the optic nerve)
* Ischemic optic neuropathy (reduced blood flow to the optic nerve)
* Compression or swelling of the optic nerve
* Hereditary or congenital conditions affecting the optic nerve
* Toxins and certain medications that can damage the optic nerve.

The diagnosis of optic atrophy typically involves a comprehensive eye examination, including visual acuity testing, refraction assessment, slit-lamp examination, and dilated funduscopic examination to evaluate the health of the optic nerve. In some cases, additional diagnostic tests such as visual field testing, optical coherence tomography (OCT), or magnetic resonance imaging (MRI) may be necessary to confirm the diagnosis and determine the underlying cause.

There is no specific treatment for optic atrophy, but addressing the underlying cause can help prevent further damage to the optic nerve. In some cases, vision rehabilitation may be recommended to help patients adapt to their visual impairment.

Sensory deprivation, also known as perceptual isolation or sensory restriction, refers to the deliberate reduction or removal of stimuli from one or more of the senses. This can include limiting input from sight, sound, touch, taste, and smell. The goal is to limit a person's sensory experiences in order to study the effects on cognition, perception, and behavior.

In a clinical context, sensory deprivation can occur as a result of certain medical conditions or treatments, such as blindness, deafness, or pharmacological interventions that affect sensory processing. Prolonged sensory deprivation can lead to significant psychological and physiological effects, including hallucinations, delusions, and decreased cognitive function.

It's important to note that sensory deprivation should not be confused with meditation or relaxation techniques that involve reducing external stimuli in a controlled manner to promote relaxation and focus.

Depth perception is the ability to accurately judge the distance or separation of an object in three-dimensional space. It is a complex visual process that allows us to perceive the world in three dimensions and to understand the spatial relationships between objects.

Depth perception is achieved through a combination of monocular cues, which are visual cues that can be perceived with one eye, and binocular cues, which require input from both eyes. Monocular cues include perspective (the relative size of objects), texture gradients (finer details become smaller as distance increases), and atmospheric perspective (colors become less saturated and lighter in value as distance increases). Binocular cues include convergence (the degree to which the eyes must turn inward to focus on an object) and retinal disparity (the slight difference in the images projected onto the two retinas due to the slightly different positions of the eyes).

Deficits in depth perception can occur due to a variety of factors, including eye disorders, brain injuries, or developmental delays. These deficits can result in difficulties with tasks such as driving, sports, or navigating complex environments. Treatment for depth perception deficits may include vision therapy, corrective lenses, or surgery.

Motion perception is the ability to interpret and understand the movement of objects in our environment. It is a complex process that involves multiple areas of the brain and the visual system. In medical terms, motion perception refers to the specific function of the visual system to detect and analyze the movement of visual stimuli. This allows us to perceive and respond to moving objects in our environment, which is crucial for activities such as driving, sports, and even maintaining balance. Disorders in motion perception can lead to conditions like motion sickness or difficulty with depth perception.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

The oculomotor nerve, also known as the third cranial nerve (CN III), is responsible for controlling several important eye movements and functions. Oculomotor nerve diseases refer to conditions that affect this nerve and can lead to various symptoms related to eye movement and function. Here's a medical definition of oculomotor nerve diseases:

Oculomotor nerve diseases are a group of medical disorders characterized by the dysfunction or damage to the oculomotor nerve (CN III), resulting in impaired eye movements, abnormalities in pupillary response, and potential effects on eyelid position. These conditions can be congenital, acquired, or traumatic in nature and may lead to partial or complete paralysis of the nerve. Common oculomotor nerve diseases include oculomotor nerve palsy, third nerve ganglionopathies, and compressive oculomotor neuropathies caused by various pathologies such as aneurysms, tumors, or infections.

Reynaert N, Braat E, de Zegher F (2015). "Congenital nystagmus and central hypothyroidism". International Journal of Pediatric ... Tajima T, Nakamura A, Ishizu K (2013). "A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism ... Tajima T, Nakamura A, Ishizu K (2013). "A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism ... Tajima T, Nakamura A, Morikawa S, Ishizu K (Sep 2014). "Neonatal screening and a new cause of congenital central hypothyroidism ...
... is also occasionally associated with vertigo. The cause of pathological nystagmus may be congenital, idiopathic, or ... downbeat nystagmus, upbeat nystagmus, seesaw nystagmus, periodic alternating nystagmus. These descriptive names can be ... "post-rotatory nystagmus", while slow phase is in the direction of rotation. Congenital nystagmus has long been viewed as ... who has congenital nystagmus, often uses the unique perspective the condition offers in his films. Bruns nystagmus Myoclonus ...
... alongside congenital nystagmus and other eye abnormalities such as cataracts. It is inherited in an autosomal dominant manner. ... split foot/split hand and congenital nystagmus". Clinical Genetics. 27 (1): 97-101. doi:10.1111/j.1399-0004.1985.tb00191.x. ... "Nystagmus-Split Hand Syndrome , Hereditary Ocular Diseases". disorders.eyes.arizona.edu. Archived from the original on 2021-06- ... Split hand split foot-nystagmus syndrome, also known as Karsch-Neugebauer syndrome is a rare genetic disorder which is ...
Steffan has low vision after being born with congenital nystagmus. He played cricket with able-bodied children up until the age ...
The disorder is also associated with myopia, nystagmus and generalized seizures.[citation needed] Norman-Roberts syndrome is ... Patients have cerebellar hypoplasia, congenital lymphedema, and hypotonia. ...
Hazel's eye condition, congenital nystagmus, has been chronicled through the series. The condition causes Hazel to have ...
"Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus". Am J Med Genet. 39 (2): ... Zhang Q, Xiao X, Li S, Guo X (2007). "FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus". Mol. Vis. ... 2000). "A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3". Am. J. Hum. Genet. 64 (4 ... 2007). "Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus". Mol. Vis. 13: 1674-9. PMID 17893669. Kaplan ...
These patients may also have reduced visual acuity, myopia, nystagmus, and strabismus. CSNB has two forms -- complete, also ... Congenital stationary night blindness (CSNB) is a rare non-progressive retinal disorder. People with CSNB often have difficulty ... The complete form of X-linked congenital stationary night blindness, also known as nyctalopia, is caused by mutations in the ... "Congenital Stationary Night Blindness (CSNB2) in Tennessee Walking Horses , Veterinary Genetics Laboratory". vgl.ucdavis.edu. ...
There is an identical gene mutated for congenital nystagmus 6 (OMIM code: 300814). Although OASD results from mutations in the ... The main signs and symptoms (phenotypes) of OASD, shown in different parts of the body, include the following: Nystagmus: ... Those with more advanced ocular manifestations due to skewed X-inactivation have reported reduced visual acuity and nystagmus. ... this helps relieve strabismus and nystagmus. OASD is one of the many contiguous gene syndromes related to OA1. Contiguous gene ...
2006). "Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC". Ophthalmic Genet. 27 (2 ...
2006). "Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3". Mol. Vis. 12: 1211-6. PMID ...
Other findings include congenital nystagmus, atrophy of the iris and pigment epithelium, easily scarred skin and keratoconus. ...
Neurological signs are nystagmus, mild craniofacial asymmetry, axial hypotonia, developmental delay, and mild mental ... Sarsfield, JK (Aug 1971). "The syndrome of congenital cerebellar ataxia, aniridia and mental retardation". Developmental ... Congenital pulmonary stenosis and helix dysplasia can be associated. Gillespie syndrome is a heterogeneous disorder, and can be ... un cas rare d'aniridie congénitale". Journal Français d'Ophthalmologie (in French). 30 (1): e1. doi:10.1016/s0181-5512(07)89554 ...
Congenital heart defects such as tetralogy of Fallot, pulmonic stenosis, aortic insufficiency and ventricular septal defect ... Ophthalmoplegia, nystagmus, ptosis, myopia, hyperopia, microphthalmia and lacrimal duct stenosis can also occur. Otologic ... Cardiology and cardiothoracic surgery is involved for monitoring and correction of congenital heart defects. Feeding therapy ...
LCA symptoms typically begin in the first few months of life, most commonly with involuntary twitching of the eye (nystagmus). ... Leber congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life. It ... Leber's congenital amaurosis at Who Named It? Leber T (1869). "Über Retinitis pigmentosa und angeborene Amaurose". Archiv für ... Abby Lockhart diagnoses a young foster girl with Leber congenital amaurosis. The girl to this point hid her condition from her ...
... nystagmus, and cerebellar atrophy. The earliest sign for TRPM3-related neurodevelopmental disorder is usually congenital ... nystagmus, ataxia, and altered pain perception. TRPM3-related neurodevelopmental disorder is an autosomal dominant genetic ...
Albinism is a congenital condition characterized in humans by the partial or complete absence of pigment in the skin, hair and ... Nystagmus-damping surgery can also be performed, to reduce the "shaking" of the eyes back and forth. The effectiveness of all ... Eye conditions common in albinism include: Nystagmus, irregular rapid movement of the eyes back and forth, or in circular ... Lee, J. (May 2002). "Surgical management of nystagmus". Journal of the Royal Society of Medicine. 95 (5): 238-241. doi:10.1177/ ...
While inclusion criteria for Rud syndrome have varied considerably, the major manifestations include congenital ichthyosis, ... nystagmus, and retinitis pigmentosa. Other systemic includes metabolic, bony, neurologic, and muscular abnormalities. In 1929, ... Kaufman, Lawrence M. (1998). "A syndrome of retinitis pigmentosa, congenital ichthyosis, hypergonadotropic hypogonadism, small ...
Crowhurst was born with autosomal dominant congenital nystagmus and cataracts with Anterior Segment Developmental Anomalies ( ...
... linear radiatory impressions on the forehead and congenital horizontal nystagmus. Those with the Setleis syndrome may be ... Focal facial dermal dysplasia is a rare genetically heterogeneous group of disorders that are characterized by congenital ...
Patients have blurred vision and nystagmus, however it is rare for the condition to be associated with either epiphora or ... Congenital hereditary corneal dystrophy (CHED) is a form of corneal endothelial dystrophy that presents at birth. CHED was ... July 2006). "Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy ( ...
... pendular nystagmus has been divided into different subtypes such as congenital nystagmus, acquired pendular nystagmus, and ... "Pendular Nystagmus". www.dizziness-and-balance.com. Retrieved 2017-12-16. "Acquired Nystagmus: Background, Pathophysiology, ... Pendular nystagmus is a sinusoidal oscillation, which refers to the waveform of involuntary eye movements that may occur in any ... "Pendular nystagmus". www.uptodate.com. Retrieved 2017-12-16. v t e (Articles with short description, Short description is ...
Fourteen cubs showed congenital vestibular system dysfunctions such as ataxia, strabismus, nystagmus, head tilting and falling ... Wheelhouse, J.L.; Hulst, F.; Beatty, J.A.; Hogg, C.J.; Child, G.; Wade, C.M. & Barrs, V.R. (2015). "Congenital vestibular ...
... who named it Cianca's Syndrome and noted the presence of manifest latent nystagmus, and Lang (1968) who called it Congenital ... congenital ..., although congenital factors may favor its development between the ages of 3 and 6 months". He identified this ... Frequent nystagmus (latent or manifest latent). The patient may or may not have any or all of the following associated ... Historically the term 'congenital strabismus' was used to describe constant esotropias with onset between birth and six months ...
Epilepsy, cataract, and nystagmus may also be found.[citation needed] The syndrome was described by Charles Clayton Dennie in ... in which there is association of spastic paraplegia of the lower limbs and mental retardation in children with congenital ...
... , also referred as nystagmus with congenital zonular cataract, is a rare congenital disease ... Zonular cataract and nystagmus at NIH's Office of Rare Diseases Falls HF (1952). "The role of the sex chromosome in hereditary ... Online Mendelian Inheritance in Man (OMIM): Zonular cataract and nystagmus - 315000 v t e (Articles with short description, ... Congenital disorders of eyes, Genetic disorders with OMIM but no gene, All stub articles, Genetic disorder stubs). ...
... nystagmus, optic disc pallor, and reduced rod function on electroretinography. Three CDG subtypes PMM2-CDG, PMI-CDG, ALG6-CDG ... Congenital Disorder of Glycosylation Type 1a; Jaeken Syndrome GeneReviews/NIH/NCBI/UW entry on Congenital Disorders of ... "Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular ... A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare ...
Short stature Congenital bilateral pendular nystagmus Shortening of the radius Shortening of the ulna Shortening of the tibia ... is a rare genetic disorder characterized by syndactyly affecting the third-fourth fingers and bilateral congenital nystagmus. ... "Orphanet: Syndactyly nystagmus syndrome due to 2q31.1 microduplication". www.orpha.net. Retrieved 2022-08-04. "Clinical ... Syndactyly-nystagmus syndrome due to 2q31.1 microduplication, also known as 2q31.1 microduplication syndrome, ...
In Japan, Kaga et al prepared a longitudinal study of rotation tests comparing congenital deafness and children with delayed ... They were able to demonstrate the development of post-rotation nystagmus response from the frequency of beat and duration ... A man named Barany (1902) published the first monograph on vestibular nystagmus that recognized the clinical usefulness of ... of the vestibulo-ocular reflex in caloric testing remains as the accepted explanation along with the description of nystagmus ...
In X-linked congenital stationary night blindness, from birth the rods either do not work at all, or work very little, but the ... nystagmus). In horses, CSNB has been linked with the leopard complex color pattern since the 1970s. A 2008 study theorizes that ... Congenital stationary night blindness is also an ophthalmologic disorder in horses with leopard spotting patterns, such as the ... Congenital stationary night blindness (CSNB) is usually diagnosed based on the owner's observations, but some horses have ...
Congenital hereditary stromal dystrophy (CHSD): CHSD is also known as Congenital stromal corneal dystrophy or Congenital ... Nystagmus is seen in association with this form. Another is an autosomal dominant form that occurs within the first few years ... Pediatric corneal opacities may be congenital or acquired. Congenital reasons for this condition include: Congenital hereditary ... Congenital opacities may occur as developmental anomalies or following birth trauma. Causes of congenital corneal opacities ...
Involuntary, rhythmic eye movements are characteristic, as they are in acquired nystagmus. ... Congenital or infantile nystagmus is a clinical sign that may take many different forms. ... encoded search term (Congenital Nystagmus (Infantile Nystagmus)) and Congenital Nystagmus (Infantile Nystagmus) What to Read ... Congenital Nystagmus (Infantile Nystagmus). Updated: Nov 18, 2022 * Author: Mark Ventocilla, OD, FAAO; Chief Editor: Edsel B ...
Most horizontal congenital nystagmus is actually horizontal-torsional congenital nystagmus. Visual acuity during horizont … ... congenital nystagmus were phase-locked made clinical detection of the torsional component difficult. ... Most "horizontal" congenital nystagmus is actually horizontal-torsional congenital nystagmus. Visual acuity during horizontal ... An additional subject without symptoms had a vertical congenital nystagmus component plus seesaw nystagmus; one of the ...
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Leber congenital amaurosis ... NMNAT1 RD3 RDH12 RPGRIP1 SPATA7 TULP1 USP45 Leber congenital amaurosis usually has an autosomal ... acuity), nearsightedness (myopia), involuntary movements of the eyes (nystagmus), and ... Autosomal recessive congenital ... SRD5A3-congenital disorder of glycosylation ... variants. The parents of an individual with an autosomal recessive condition ... ALG1-congenital disorder of glycosylation ... mutations. The parents of an individual with an autosomal recessive condition ...
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response. 0. Isolated Microphthalmia with Cataract 2. 2 ... Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response. 0. Isolated Microphthalmia with Cataract 2. 2 ... ClinVar Annotator: match by term: Nystagmus 6, congenital, X-linked. OMIM. CTD. ClinVar. PMID:15965158 PMID:17516023 PMID: ... ClinVar Annotator: match by term: Congenital nystagmus. ClinVar. PMID:25741868 PMID:28492532 PMID:35348658. NCBI chr11: ...
... congenital nystagmus, ataxia and abnormal auditory brainstem response. ... About Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response. Many rare diseases have limited ... When Do Symptoms of Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response Begin?. This section is ... Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response. *. *Hypotonia, congenital nystagmus, ataxia ...
Congenital fibrosis of the extraocular muscles: MedlinePlus Genetics (National Library of Medicine) ... Nystagmus (American Academy of Ophthalmology) Also in Spanish * Nystagmus (American Association for Pediatric Ophthalmology and ... ClinicalTrials.gov: Nystagmus, Pathologic (National Institutes of Health) * ClinicalTrials.gov: Ocular Motility Disorders ( ... Nystagmus - fast, uncontrollable movements of the eyes, sometimes called "dancing eyes". Some eye movement disorders are ...
Get tips and support for adults and children living with nystagmus. Discover ways to make the most of your vision with Guide ... Supporting children with congenital nystagmus Nystagmus is the most common type of vision impairment in school-aged children ( ... Driving with nystagmus. Congenital nystagmus often causes difficulties with depth perception and judging distances. Many people ... The Nystagmus Network offers a parents forum. Living independently with nystagmus People with nystagmus can have very ...
Visual outcomes of patients with congenital cataracts and sensory nystagmus. Year published: 2015. , Research Type:. *Article ... Nystagmus Patient Information Day 8th November 2018 * Message to Parents and Carers of children aged between 6 months and 5 ...
Mutations analysis of FRMD7 gene in idiopathic congenital nystagmus families. October 9, 2019 ... To reveal the pathogenic mutations in Chinese families with idiopathic congenital nystagmus(ICN) ...
Reynaert N, Braat E, de Zegher F (2015). "Congenital nystagmus and central hypothyroidism". International Journal of Pediatric ... Tajima T, Nakamura A, Ishizu K (2013). "A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism ... Tajima T, Nakamura A, Ishizu K (2013). "A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism ... Tajima T, Nakamura A, Morikawa S, Ishizu K (Sep 2014). "Neonatal screening and a new cause of congenital central hypothyroidism ...
Congenital Nystagmus. *Conjunctiva Degeneration Deposit. *Conjunctival Hemorrhage. *Contusion of the Eyeball. *Corneal Abrasion ...
Cause of Congenital Nystagmus Found. Sep. 12, 2019 Researchers have overturned the long held view that congenital nystagmus, a ...
... nystagmus, and decreased visual acuity [4]. The term aniridia is a misnomer, as all patients have at least a rudimentary iris ... Congenital Aniridia Congenital Aniridia Kirsten Goetz, BS, Jesse M. Vislisel, MD, Matthew E. Raecker, MD, Kenneth M. Goins, MD ... Congenital aniridia. Discussion. Genetics. Aniridia is described as complete or partial absence of the iris. The incidence of ... The patient has a congenital cataract in the right eye and is aphakic in the left eye after having undergone cataract surgery. ...
describe a woman who had nystagmus and vertigo with routine sounds; running tap water caused her to fall to the floor or retch ... The Tullio phenomenon is seen in a range of clinical contexts, including congenital deafness, Meniere disease, suppurative ... When the examiner clapped his hands loudly a few feet from the patients ear, the patient exhibited nystagmus. His sinuses were ... In this condition, loud sounds or even routine acoustic stimuli can result in vertigo, nystagmus, or nausea and vomiting. The ...
Congenital Motor Nystagmus...303 • Exudative Retinal Detachment...304 • Ophthalmology in Ancient Babylonia...305 • Eye ... Congenital Esotropia...277 • Pellucid Marginal Degeneration...278 • Acute Retinal Necrosis...279 • Lens-Induced Uveitis and ... Lebers Congenital Amaurosis...195 • Lid Retraction...196 • Idiopathic Juxtafoveal Telangiectasia...197 • Joseph Lister...198 ... Congenital Glaucoma...338 • Slit Lamp Biomicroscopy...339 • Choroidal Metastasis...340 • Rhegmatogenous Retinal Detachment... ...
Congenital ptosis. Nasal lacrimal (tear) duct surgery. Nystagmus. Pediatric contact lenses. Pediatric glaucoma surgery. ...
... is one of the congenital muscular dystrophies, showing central nervous system (CNS) and ocular lesions, in addition to muscular ... Clinical symptoms include myopia, strabismus, and nystagmus [30, 31, 32]. Cataract, atrophy of the optic nerve, and retinal ... Fukuyama congenital muscular dystrophy (FCMD) is one of the congenital muscular dystrophies, showing central nervous system ( ... Fukuyama type congenital progressive muscular dystrophy. In: Fukuyama Y, Osawa M, Saito K, editors. Congenital Muscular ...
Nystagmus may be induced with an optokinetic drum or through the stimulation of the semicircular canals. Congenital nystagmus ... Head-tilting may decrease the nystagmus and is usually involuntary (toward the fast component in jerky nystagmus or in such a ... position to minimize pendular nystagmus). Head nodding often accompanies congenital nystagmus. Dizziness or vertigo may be ... Educationally, children with nystagmus (who may tend to lose their place in beginning reading instruction) may be helped ...
Willow has been seen by two doctors that have diagnosed her with nystagmus. The cause of this can be a congenital neurological ...
Leber congenital amaurosis (LCA) manifests itself in the first 6 months of life with significant visual loss and sensory, ... Mild nystagmus (when present). Fundus exam is characteristic for a blond translucent appearance and whitish drusen-like ... Nystagmus, hemeralopia, mild myopia; no photophobia75. Funduscopic findings of patients with TULP1 LCA mutations vary ... Nystagmus. Hyperopic refractive error. Normal fundus in childhood progressing to various degree of atrophic changes32 including ...
VEP projections in congenital nystagmus; VEP asymmetry in albinism: a comparison study. Invest Ophtholmol Vis Sci. 1991;32:2653 ... Visual evoked response asymmetry only in the albino member of a family with congenital nystagmus. ... We determined horizontal nystagmus amplitude, visual acuity, and binocular vision in the subjects with albinism. As evident ... Spontaneous nystagmus was evident in most subjects with albinism. We recorded the horizontal electro-oculogram (EOG) ...
This information may provide some hope to parents with children suffering from congenital blindness. A research conducted at ... Post treatment, around seven of them had noteworthy progress in nystagmus.. Prior to the treatment, it was seen that the ... Home Eye Care Children with congenital blindness may now see thanks to one shot of... ... Children with congenital blindness may now see thanks to one shot of gene therapy. ...
Down syndrome, nystagmus, congenital heart defects (PFO and ASD). Listed: April 2018 ... Down syndrome, Congenital heart defect, unknown eye issue (not in file). Delfina is a precious little girl who is described by ... Down syndrome, congenital heart defect (VSD), umbilical hernia. Maura is a beautiful little girl! She is described as quiet, ... Stella is a sweet and smiley girl who was born with down syndrome and a congenital heart defect- ASD, for which she has already ...
A 5-year old boy presented with congenital nystagmus. Journal of pediatric ophthalmology and strabismus Ruttum, M., Alcorn, D ... Congenital hypertrophy of the retinal pigment epithelium predicts colorectal polyposis in Gardners syndrome. Archives of ... Congenital circumscribed choroidal haemangioma associated with infantile hepatic haemangioendotheliomatosis BRITISH JOURNAL OF ... This study assessed referral patterns for congenital or infantile cataracts in two regions of the United States.METHODS: The ...
Congenital achiasma and see-saw nystagmus in VACTERL syndrome. Journal of Neuro-Ophthalmology : the Official Journal of the ...
... comprises congenital insensitivity to light, massive retrolental mass, shallow anterior chamber, microphthalmia, and nystagmus ... Autosomal recessive nonsyndromic congenital retinal nonattachment (NCRNA) comprises congenital insensitivity to light, massive ...
This may be due to blocked tear ducts or congenital glaucoma.. *Drooping upper eyelid on either side or both may have been ... Nystagmus-eyes making rapid, repetitive, uncontrolled movements.. *Larger than normal pupils, sensitivity to light and teary ... eyes may point to congenital glaucoma.. Moreover, pediatrician usually sends children with developmental delay or Downs ...
One individual was treated successfully for a congenital retinoblastoma. Nystagmus was also described in a small number of ... Congenital structural malformations. Although not frequently reported, some individuals had congenital malformations of the ... Hypotonia was present in all but one of the neonates, often causing feeding difficulties (81%). Apnoeas and congenital ... Interestingly, remarkable differences, such as the presence or absence of epilepsy or congenital malformations, were observed ...

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