Albinism ocular. Medical search

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.

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.

An enzyme of the oxidoreductase class that catalyzes the reaction between L-tyrosine, L-dopa, and oxygen to yield L-dopa, dopaquinone, and water. It is a copper protein that acts also on catechols, catalyzing some of the same reactions as CATECHOL OXIDASE. EC 1.14.18.1.

Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.

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)

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.

The common orally transmitted traditions, myths, festivals, songs, superstitions, and stories of all peoples.

Melanin-containing organelles found in melanocytes and melanophores.

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)

The organ of sight constituting a pair of globular organs made up of a three-layered roughly spherical structure specialized for receiving and responding to light.

A condition in which the intraocular pressure is elevated above normal and which may lead to glaucoma.

Color of the iris.

Mammalian pigment cells that produce MELANINS, pigments found mainly in the EPIDERMIS, but also in the eyes and the hair, by a process called melanogenesis. Coloration can be altered by the number of melanocytes or the amount of pigment produced and stored in the organelles called MELANOSOMES. The large non-mammalian melanin-containing cells are called MELANOPHORES.

Coloration or discoloration of a part by a pigment.

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.

Insoluble polymers of TYROSINE derivatives found in and causing darkness in skin (SKIN PIGMENTATION), hair, and feathers providing protection against SUNBURN induced by SUNLIGHT. CAROTENES contribute yellow and red coloration.

Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME.

Infection caused by the protozoan parasite TOXOPLASMA in which there is extensive connective tissue proliferation, the retina surrounding the lesions remains normal, and the ocular media remain clear. Chorioretinitis may be associated with all forms of toxoplasmosis, but is usually a late sequel of congenital toxoplasmosis. The severe ocular lesions in infants may lead to blindness.

The electric response evoked in the cerebral cortex by visual stimulation or stimulation of the visual pathways.

Abnormal sensitivity to light. This may occur as a manifestation of EYE DISEASES; MIGRAINE; SUBARACHNOID HEMORRHAGE; MENINGITIS; and other disorders. Photophobia may also occur in association with DEPRESSION and other MENTAL DISORDERS.

Coloration of the skin.

A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.

Membrane proteins whose primary function is to facilitate the transport of molecules across a biological membrane. Included in this broad category are proteins involved in active transport (BIOLOGICAL TRANSPORT, ACTIVE), facilitated transport and ION CHANNELS.

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.

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.

The functional superiority and preferential use of one eye over the other. The term is usually applied to superiority in sighting (VISUAL PERCEPTION) or motor task but not difference in VISUAL ACUITY or dysfunction of one of the eyes. Ocular dominance can be modified by visual input and NEUROTROPHIC FACTORS.

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.

Measurement of ocular tension (INTRAOCULAR PRESSURE) with a tonometer. (Cline, et al., Dictionary of Visual Science, 4th ed)

A plant family of the order Liliales, subclass Liliidae, class Liliopsida (monocotyledons). Most species are perennials, native primarily to tropical America. They have creeping rootstocks, fibrous roots, and leaves in clusters at the base of the plant or borne on branched stems. The fruit is a capsule containing many seeds, or a one-seeded winged structure.

Refraction of LIGHT effected by the media of the EYE.

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.

The concave interior of the eye, consisting of the retina, the choroid, the sclera, the optic disk, and blood vessels, seen by means of the ophthalmoscope. (Cline et al., Dictionary of Visual Science, 4th ed)

The most anterior portion of the uveal layer, separating the anterior chamber from the posterior. It consists of two layers - the stroma and the pigmented epithelium. Color of the iris depends on the amount of melanin in the stroma on reflection from the pigmented epithelium.

Tumors or cancer of the EYE.

A family of fresh water fish in the order CHARACIFORMES, which includes the Tetras.

The state of estrangement individuals feel in cultural settings that they view as foreign, unpredictable, or unacceptable.

Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.

An enzyme of the oxidoreductase class that catalyzes the reaction between catechol and oxygen to yield benzoquinone and water. It is a complex of copper-containing proteins that acts also on a variety of substituted catechols. EC 1.10.3.1.

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)

The layer of pigment-containing epithelial cells in the RETINA; the CILIARY BODY; and the IRIS in the eye.

Geological formations consisting of underground enclosures with access from the surface.

A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.

The transparent anterior portion of the fibrous coat of the eye consisting of five layers: stratified squamous CORNEAL EPITHELIUM; BOWMAN MEMBRANE; CORNEAL STROMA; DESCEMET MEMBRANE; and mesenchymal CORNEAL ENDOTHELIUM. It serves as the first refracting medium of the eye. It is structurally continuous with the SCLERA, avascular, receiving its nourishment by permeation through spaces between the lamellae, and is innervated by the ophthalmic division of the TRIGEMINAL NERVE via the ciliary nerves and those of the surrounding conjunctiva which together form plexuses. (Cline et al., Dictionary of Visual Science, 4th ed)

Processes and properties of the EYE as a whole or of any of its parts.

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)

Damage or trauma inflicted to the eye by external means. The concept includes both surface injuries and intraocular injuries.

Color of hair or fur.

Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus.

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.

The pressure of the fluids in the eye.

Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid.

Glycoproteins found on the membrane or surface of cells.

The fluid secreted by the lacrimal glands. This fluid moistens the CONJUNCTIVA and CORNEA.

The process in which light signals are transformed by the PHOTORECEPTOR CELLS into electrical signals which can then be transmitted to the brain.

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)

Diseases, dysfunctions, or disorders of or located in the iris.

Sterile solutions that are intended for instillation into the eye. It does not include solutions for cleaning eyeglasses or CONTACT LENS SOLUTIONS.

Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored.

Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome.

A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.

A republic in western Africa, south of SENEGAL and MALI, east of GUINEA-BISSAU. Its capital is Conakry.

Set of cell bodies and nerve fibers conducting impulses from the eyes to the cerebral cortex. It includes the RETINA; OPTIC NERVE; optic tract; and geniculocalcarine tract.

The 2nd cranial nerve which conveys visual information from the RETINA to the brain. The nerve carries the axons of the RETINAL GANGLION CELLS which sort at the OPTIC CHIASM and continue via the OPTIC TRACTS to the brain. The largest projection is to the lateral geniculate nuclei; other targets include the SUPERIOR COLLICULI and the SUPRACHIASMATIC NUCLEI. Though known as the second cranial nerve, it is considered part of the CENTRAL NERVOUS SYSTEM.

The ten-layered nervous tissue membrane of the eye. It is continuous with the OPTIC NERVE and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the CHOROID and the inner surface with the VITREOUS BODY. The outer-most layer is pigmented, whereas the inner nine layers are transparent.

An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)

Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites.

An island in the Greater Antilles in the West Indies. Its capital is San Juan. It is a self-governing commonwealth in union with the United States. It was discovered by Columbus in 1493 but no colonization was attempted until 1508. It belonged to Spain until ceded to the United States in 1898. It became a commonwealth with autonomy in internal affairs in 1952. Columbus named the island San Juan for St. John's Day, the Monday he arrived, and the bay Puerto Rico, rich harbor. The island became Puerto Rico officially in 1932. (From Webster's New Geographical Dictionary, 1988, p987 & Room, Brewer's Dictionary of Names, 1992, p436)

A melanocortin receptor subtype found primarily in MELANOCYTES. It shows specificity for ALPHA-MSH and ADRENOCORTICOTROPIC HORMONE. Loss of function mutations of the type 1 melanocortin receptor account for the majority of red hair and fair skin recessive traits in human.

Genes that influence the PHENOTYPE only in the homozygous state.

Infection, moderate to severe, caused by bacteria, fungi, or viruses, which occurs either on the external surface of the eye or intraocularly with probable inflammation, visual impairment, or blindness.

Inflammation of part or all of the uvea, the middle (vascular) tunic of the eye, and commonly involving the other tunics (sclera and cornea, and the retina). (Dorland, 27th ed)

Chromatophores (large pigment cells of fish, amphibia, reptiles and many invertebrates) which contain melanin. Short term color changes are brought about by an active redistribution of the melanophores pigment containing organelles (MELANOSOMES). Mammals do not have melanophores; however they have retained smaller pigment cells known as MELANOCYTES.

Corneal and conjunctival dryness due to deficient tear production, predominantly in menopausal and post-menopausal women. Filamentary keratitis or erosion of the conjunctival and corneal epithelium may be caused by these disorders. Sensation of the presence of a foreign body in the eye and burning of the eyes may occur.

The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

Chemical or physical agents that protect the skin from sunburn and erythema by absorbing or blocking ultraviolet radiation.

Abnormally low intraocular pressure often related to chronic inflammation (uveitis).

The class of all enzymes catalyzing oxidoreduction reactions. The substrate that is oxidized is regarded as a hydrogen donor. The systematic name is based on donor:acceptor oxidoreductase. The recommended name will be dehydrogenase, wherever this is possible; as an alternative, reductase can be used. Oxidase is only used in cases where O2 is the acceptor. (Enzyme Nomenclature, 1992, p9)

A republic in southern Africa, east of ZAMBIA and BOTSWANA and west of MOZAMBIQUE. Its capital is Harare. It was formerly called Rhodesia and Southern Rhodesia.

A family of large adaptin protein complex subunits of approximately 90-130 kDa in size.

The transparent, semigelatinous substance that fills the cavity behind the CRYSTALLINE LENS of the EYE and in front of the RETINA. It is contained in a thin hyaloid membrane and forms about four fifths of the optic globe.

Recording of electric potentials in the retina after stimulation by light.

Voluntary or reflex-controlled movements of the eye.

Biochemical identification of mutational changes in a nucleotide sequence.

An injury to the skin causing erythema, tenderness, and sometimes blistering and resulting from excessive exposure to the sun. The reaction is produced by the ultraviolet radiation in sunlight.

Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (BLOOD COAGULATION DISORDERS) or another abnormality causing a structural flaw in the blood vessels (HEMOSTATIC DISORDERS).

An oval area in the retina, 3 to 5 mm in diameter, usually located temporal to the posterior pole of the eye and slightly below the level of the optic disk. It is characterized by the presence of a yellow pigment diffusely permeating the inner layers, contains the fovea centralis in its center, and provides the best phototropic visual acuity. It is devoid of retinal blood vessels, except in its periphery, and receives nourishment from the choriocapillaris of the choroid. (From Cline et al., Dictionary of Visual Science, 4th ed)

Diseases of the cornea.

The clear, watery fluid which fills the anterior and posterior chambers of the eye. It has a refractive index lower than the crystalline lens, which it surrounds, and is involved in the metabolism of the cornea and the crystalline lens. (Cline et al., Dictionary of Visual Science, 4th ed, p319)

A naturally occurring lipid pigment with histochemical characteristics similar to lipofuscin. It accumulates in various tissues in certain experimental and pathological conditions.

An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.

Congenital absence of or defects in structures of the eye; may also be hereditary.

Albinism: its implications for refractive development. (1/72)

PURPOSE: Albinism involves the mutation of one or more of the genes associated with melanin synthesis and has many ramifications for vision. This study focuses on the refractive implications of albinism in the context of emmetropization. METHODS: Refractive, biometric, and visual acuity data were collected for a group of 25 albino individuals that included the following: 18 oculocutaneous (13 tyrosine positive, 5 tyrosine negative); 7 ocular (2 autosomal recessive, 5 sex-linked recessive). Their age range was 3 to 51 years. All exhibited horizontal pendular nystagmus. RESULTS: There were no statistically significant differences relating to albino subtype for any of the measured parameters. All the subjects had reduced visual acuity (mean: 0.90, logMAR) and overall, there was a bias toward hyperopia in their refractive errors (mean: + 1.07 D). However the refractive errors of the group covered a broad range (SD: 4.67 D) and included both high myopia and high hyperopia. An axial origin to the refractive errors is implied by the high correlation between refractive errors and axial lengths. Refractive astigmatism averaged 2.37 D and was consistently with-the-rule and highly correlated with corneal astigmatism, which was also with-the-rule. Meridional analysis of the refractive data indicated that the vertical meridian for hyperopic subjects was consistently nearer emmetropia compared to their horizontal meridian. Myopic subjects showed the opposite trend. CONCLUSIONS: The overall refractive profile of the subjects is consistent with emmetropization being impaired in albinism. However, the refractive errors of hyperopic subjects also can be explained in terms of "meridional emmetropization." The contrasting refractive profiles of myopic subjects may reflect operational constraints of the emmetropization process. (+info)

Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1. (2/72)

Ocular albinism type I (OA1) is an X-linked disorder characterized by severe reduction of visual acuity, strabismus, photophobia and nystagmus. Ophthalmologic examination reveals hypopigmentation of the retina, foveal hypoplasia and iris translucency. Microscopic examination of both retinal pigment epithelium (RPE) and skin melanocytes shows the presence of large pigment granules called giant melanosomes or macromelanosomes. In this study, we have generated and characterized Oa1-deficient mice by gene targeting (KO). The KO males are viable, fertile and phenotypically indistinguishable from the wild-type littermates. Ophthalmologic examination shows hypopigmentation of the ocular fundus in mutant animals compared with wild-type. Analysis of the retinofugal pathway reveals a reduction in the size of the uncrossed pathway, demonstrating a misrouting of the optic fibres at the chiasm, as observed in OA1 patients. Microscopic examination of the RPE shows the presence of giant melanosomes comparable with those described in OA1 patients. Ultrastructural analysis of the RPE cells, suggests that the giant melanosomes may form by abnormal growth of single melanosomes, rather than the fusion of several, shedding light on the pathogenesis of ocular albinism. (+info)

Expression pattern of the ocular albinism type 1 (Oa1) gene in the murine retinal pigment epithelium. (3/72)

PURPOSE: Mutations in the OA1 gene cause ocular albinism type 1 (OA1), an X-linked form of albinism affecting only the eye, with skin pigmentation appearing normal. To better understand the pathogenesis of this disease the time of onset and the pattern of expression of the mouse homolog of the OA1 gene were monitored during eye development. The localization of Oa1 mRNA was studied and compared with the expression of other genes involved in melanosomal biogenesis. METHODS: The Oa1 expression pattern during eye development and after birth was analyzed by reverse transcription-polymerase chain reaction (RT-PCR) and in situ hybridization. Localization of Oa1 mRNA was compared with TYROSINASE: (TYR:), pink-eyed dilution (p), and Pax2 expression patterns. RESULTS: RT-PCR revealed that Oa1 expression began at embryonic day (E)10.5 and was maintained until adulthood. By in situ hybridization analysis Oa1 transcripts were detected in the retinal pigment epithelium (RPE) beginning at E10.5 in the dorsal part of the eyecup and in the same area where transcripts of other genes involved in pigmentation are found. Of note, the expression pattern of these genes was complementary to Pax2 expression, which was restricted to the ventral side of the optic cup. At later stages, expression of Oa1, TYR:, and p expanded to the entire RPE and ciliary body. CONCLUSIONS: Oa1 expression can be detected at early stages of RPE development, together with other genes involved in pigmentation defects. Oa1 is likely to play an important function in melanosomal biogenesis in the RPE beginning during the earliest steps of melanosome formation. (+info)

Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. (4/72)

Ocular albinism type 1 (OA1) is an X-linked disorder mainly characterized by a severe reduction of visual acuity, hypopigmentation of the retina and the presence of macromelanosomes in the skin and eyes. Various types of mutation have been identified within the OA1 gene in patients with the disorder, including several missense mutations of unknown functional significance. In order to shed light into the molecular pathogenesis of ocular albinism and possibly define critical functional domains within the OA1 protein, we characterized 19 independent missense mutations with respect to processing and subcellular distribution on expression in COS-7 cells. Our analysis indicates the presence of at least two distinct biochemical defects associated with the different missense mutations. Eleven of the nineteen OA1 mutants (approximately 60%) were retained in the endoplasmic reticulum, showing defecNStive intracellular transport and glycosylation, consistent with protein misfolding. The remaining eight of the nineteen OA1 mutants (approximately 40%) displayed sorting and processing behaviours indistinguishable from those of the wild-type protein. Consistent with our recent findings that OA1 represents a novel type of intracellular G protein-coupled receptor (GPCR), we found that most of these latter mutations cluster within the second and third cytosolic loops, two regions that in canonical GPCRs are known to be critical for their downstream signaling, including G protein-coupling and effector activation. The biochemical analysis of OA1 mutations performed in this study provides important insights into the structure-function relationships of the OA1 protein and implies protein misfolding as a major pathogenic mechanism in OA1. (+info)

Behavioral visual responses of wild-type and hypopigmented zebrafish. (5/72)

Zebrafish possess three classes of chromatophores that include iridophores, melanophores, and xanthophores. Mutations that lack one or two classes of chromatophores have been isolated or genetically constructed. Using a behavioral assay based on visually mediated escape responses, we measured the visual response of fully and partially pigmented zebrafish. In zebrafish that lack iridophores (roy mutants), the behavioral visual responses were similar to those of wild-type animals except at low contrast stimulation. In the absence of melanophores (albino mutants) or both melanophores and iridophores (ruby mutants), the behavioral visual responses were normal under moderate illumination but reduced when tested under dim or bright conditions or under low contrast stimulation. Together, the data suggest that screening pigments in the retina play a role in the regulation of behavioral visual responses and are necessary for avoiding "scatter" under bright light conditions. (+info)

Correlation between rod photoreceptor numbers and levels of ocular pigmentation. (6/72)

PURPOSE: Ocular melanin synthesis modulates rod photoreceptor production, because in albino eyes, rod numbers are reduced by approximately 30%. In this study, rod numbers and ocular rhodopsin concentrations were measured in intermediate pigmentation phenotypes to determine whether proportional reductions in melanin are correlated with proportional changes in rod numbers. Further, patterns of cell production and death were examined around the time of birth, when rod production peaks, to determine whether there are abnormalities in these features associated with hypopigmentation. METHODS: Four mouse pigmentation phenotypes were used: fully pigmented, albino, Beige, and Himalayan. The latter two are intermediate-pigmentation phenotypes, with Beige having markedly more pigment than Himalayan. Ocular melanin concentrations were measured during development and at maturity. Rods were counted at maturity and measurements of ocular rhodopsin undertaken. Mitotic and pyknotic cells were also counted in neonates. RESULTS: Rods and ocular rhodopsin were reduced in both Beige and Himalayan mice below levels found in fully pigmented mice, but not to levels found in albino animals. This was more marked in Himalayan than Beige mice, reflecting the lower concentration of melanin found in the former compared with the latter, both in development and at maturity. Although patterns of cell production were elevated in the hypopigmented animals, such patterns varied. CONCLUSIONS: Rod numbers are modulated within a range between that in fully pigmented and albino phenotypes by the concentration of ocular melanin. However, in these animals, there is no obvious correlation between these events and patterns of cell production and death in neonates. (+info)

Motor and sensory characteristics of infantile nystagmus. (7/72)

BACKGROUND/AIMS: Past studies have explored some of the associations between particular motor and sensory characteristics and specific categories of non-neurological infantile nystagmus. The purpose of this case study is to extend this body of work significantly by describing the trends and associations found in a database of 224 subjects who have undergone extensive clinical and psychophysical evaluations. METHODS: The records of 224 subjects with infantile nystagmus were examined, where 62% were idiopaths, 28% albinos, and 10% exhibited ocular anomalies. Recorded variables included age, mode of inheritance, birth history, nystagmus presentation, direction of the nystagmus, waveform types, spatial and temporal null zones, head postures and nodding, convergence, foveation, ocular alignment, refractive error, visual acuity, stereoacuity, and oscillopsia. RESULTS: The age distribution of the 224 patients was between 1 month and 71 years, with the mean age and mode being 23 (SD 16) years and 16-20 years respectively. By far the most common pattern of inheritance was found to be autosomal dominant (n = 40), with the nystagmus being observed by the age of 6 months in 87% of the sample (n = 128). 139 (62%) of the 224 subjects were classified as idiopaths, 63 (28%) as albinos, and 22 (10%) exhibited ocular anomalies. Conjugate uniplanar horizontal oscillations were found in 174 (77.7%) of the sample. 32 (14.3%) had a torsional component to their nystagmus. 182 (81.2%) were classed as congenital nystagmus (CN), 32 (14.3%) as manifest latent nystagmus (MLN), and 10 (4.5%) as a CN/MLN hybrid. Neither CN nor MLN waveforms were related to any of the three subject groups (idiopaths, albinos, and ocular anomalies) MLN was found in idiopaths and albinos, but most frequently in the ocular anomaly group. The most common oscillation was a horizontal jerk with extended foveation (n = 49; 27%). The amplitudes and frequencies of the nystagmus ranged between 0.3-15.7 degrees and 0.5-8 Hz, respectively. Periodic alternating nystagmus is commonly found in albinos. Albino subjects did not show a statistically significantly higher nystagmus intensity when compared with the idiopaths (p>0.01). 105 of 143 subjects (73%) had spatial nulls within plus or minus 10 degrees of the primary position although 98 subjects (69%) employed a compensatory head posture. Subjects with spatial null zones at or beyond plus or minus 20 degrees always adopted constant head postures. Head nodding was found in 38 subjects (27% of the sample). Horizontal tropias were very common (133 out of 213; 62.4%) and all but one of the 32 subjects with MLN exhibited a squint. Adult visual acuity is strongly related to the duration and accuracy of the foveation period. Visual acuity and stereoacuity were significantly better (p<0.01) in the idiopaths compared to the albino and ocular anomaly groups. 66 subjects out of a sample of 168 (39%) indicated that they had experienced oscillopsia at some time. CONCLUSIONS: There are strong ocular motor and sensory patterns and associations that can help define an infantile nystagmus. These include the nystagmus being bilateral, conjugate, horizontal uniplanar, and having an accelerating slow phase (that is, CN). Decelerating slow phases (that is, MLN) are frequently associated with strabismus and early form deprivation. Waveform shape (CN or MLN) is not pathognomonic of any of the three subject groups (idiopaths, albinos, or ocular anomalies). There is no one single stand alone ocular motor characteristic that can differentiate a benign form of infantile nystagmus (CN, MLN) from a neurological one. Rather, the clinician must consider a host of clinical features. (+info)

Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay. (8/72)

BACKGROUND: X-linked ocular albinism type 1 (OA1) is caused by mutations in OA1 gene, which encodes a membrane glycoprotein localised to melanosomes. OA1 mainly affects pigment production in the eye, resulting in optic changes associated with albinism including hypopigmentation of the retina, nystagmus, strabismus, foveal hypoplasia, abnormal crossing of the optic fibers and reduced visual acuity. Affected Caucasian males usually appear to have normal skin and hair pigment. RESULTS: We identified three previously undescribed mutations consisting of two intragenic deletions (one encompassing exon 6, the other encompassing exons 7-8), and a point mutation (310delG) in exon 2. We report the development of a new method for diagnosis of heterozygous deletions in OA1 gene based on measurement of gene copy number using real-time quantitative PCR from genomic DNA. CONCLUSION: The identification of OA1 mutations in families earlier reported as families with hereditary nystagmus indicate that ocular albinism type 1 is probably underdiagnosed. Our method of real-time quantitative PCR of OA1 exons with DMD exon as external standard performed on the LightCycler trade mark allows quick and accurate carrier-status assessment for at-risk females. (+info)

... it usually refers to mild variants of oculocutaneous albinism rather than ocular albinism, which is X-linked. "Ocular albinism ... Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes. There are ... Sex-linked ocular albinism displaying typical fundal changes in the female heterozygote. American Journal of Ophthalmology, ... GeneReviews/NCBI/NIH/UW entry on Ocular Albinism, X-Linked (CS1 German-language sources (de), Articles with short description, ...

https://en.wikipedia.org/wiki/Ocular_albinism

... (OA1) is the most common type of ocular albinism, with a prevalence rate of 1:50,000. It is an ... Ocular albinism: Evidence for a defect in an intracellular signal transduction system. Nature Genetics 23:108. "NOAH - Ocular ... Albinism may manifest itself as oculocutaneous (OCA) or just ocular (OA). There occur at least ten different types of OCA and ... Ocular albinism results from defects in the melanin system, which may arise from either defects in the OA1 receptor, or ...

https://en.wikipedia.org/wiki/Ocular_albinism_type_1

It is a subtype of Ocular Albinism (OA) that is linked to Ocular albinism type I (OA1). OA1 is the most common form of ocular ... "Ocular albinism: MedlinePlus Genetics". medlineplus.gov. Retrieved 2021-04-01. "Albinism, Ocular Type 1 , Hereditary Ocular ... "Albinism, Ocular Type 1 , Hereditary Ocular Diseases". disorders.eyes.arizona.edu. Retrieved 2021-04-01. Lewis, RA (2015-11-19 ... Ocular albinism late onset sensorineural deafness (OASD) is a rare, X-linked recessive disease characterized by intense visual ...

https://en.wikipedia.org/wiki/Ocular_albinism_late_onset_sensorineural_deafness

Ocular albinism. Affects the eyes, causing blindness. Hermansky-Pudlak syndrome Effects include a bleeding disorder, IBS, and ... The depiction of albinism in popular culture, especially the portrayal of people with albinism in film and fiction, has been ... Centers, S. (2005). "Famous People with Albinism". SARA-Foundation.com. Campbell, California: Supporting Albinism Research and ... Types of albinism include: Oculocutaneous albinism. Affects the skin, hair, and eyes. Around 1 in 70 people have a mutation in ...

https://en.wikipedia.org/wiki/Albinism_in_popular_culture

"Albinism, Oculocutaneous, Type I , Hereditary Ocular Diseases". disorders.eyes.arizona.edu. Retrieved 2021-04-26. Marçon, ... Because type IA Albinism has no functioning copies of the gene, it is the most severe type of albinism. The mutations on this ... Oculocutaneous albinism type IA is the most severe type of albinism, as it is characterized by no melanin production. Other ... Oculocutaneous albinism type I or type 1A is an autosomal recessive skin disease. This subtype of oculocutaneous albinism is ...

https://en.wikipedia.org/wiki/Oculocutaneous_albinism_type_I

"Ocular Manifestations of Albinism". eMedicine. WebMD. Archived from the original on 9 June 2007. Retrieved 31 March 2007. ... Oculocutaneous albinism is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and the hair. Overall, an ... "Orphanet: Oculocutaneous albinism". Orphanet. "OMIM Entry - #615179 - ALBINISM, OCULOCUTANEOUS, TYPE VII; OCA7". Online ... 864 Oculocutaneous albinism is also found in non-human animals. The following types of oculocutaneous albinism have been ...

https://en.wikipedia.org/wiki/Oculocutaneous_albinism

An exception to this is ocular albinism, which it is passed on to offspring through X-linked inheritance. Thus, ocular albinism ... "Information Bulletin - Ocular Albinism". National Organization for Albinism and Hypopigmentation. Archived from the original on ... The other end of the spectrum of albinism is "a form of albinism called rufous oculocutaneous albinism, which usually affects ... The chance of offspring with albinism resulting from the pairing of an organism with albinism and one without albinism is low. ...

https://en.wikipedia.org/wiki/Albinism_in_humans

"Ocular straylight in albinism". Optom Vis Sc 2011;88:E585-E592 Van Bree MC et al. "Straylight values after refractive surgery ... Ocular straylight is a phenomenon where parts of the eye scatter light, creating glare. It is analogous to stray light in other ... Lack of pigmentation, e.g. albinism. Laser refractive surgery, with occasional haze formation. Excessive floaters in the ...

https://en.wikipedia.org/wiki/Ocular_straylight

MITF Waardenburg syndrome/albinism, digenic; 103470; TYR Waardenburg syndrome/ocular albinism, digenic; 103470; MITF Wagner ... OCA2 Albinism, brown; 203290; TYRP1 Albinism, oculocutaneous, type IA; 203100; TYR Albinism, oculocutaneous, type IB; 606952; ... ATP7A Ocular albinism, type I, Nettleship-Falls type; 300500; GPR143 Oculoauricular syndrome; 612109; HMX1 Oculocutaneous ... TYR Albinism, oculocutaneous, type II; 203200; OCA2 Albinism, rufous; 278400; TYRP1 Alcohol sensitivity, acute; 610251; ALDH2 ...

https://en.wikipedia.org/wiki/List_of_OMIM_disorder_codes

He was diagnosed with ocular albinism. Skelley is married to Louise Hunt. Skelley took up judo as a sport at the age of five. A ...

https://en.wikipedia.org/wiki/Chris_Skelley

... deformations in the skeleton Ocular albinism; lack of pigmentation in the eye Ornithine transcarbamylase deficiency; ... Fabry disease; A lysosomal storage disease causing anhidrosis, fatigue, angiokeratomas, burning extremity pain and ocular ...

https://en.wikipedia.org/wiki/X-linked_recessive_inheritance

Ocular albinism affects not only eye pigmentation but visual acuity, as well. People with albinism typically test poorly, ... Another form of Albinism, the "yellow oculocutaneous albinism", appears to be more prevalent among the Amish, who are of ... "Ocular Manifestations of Albinism: Background, Pathophysiology, Epidemiology". Medscape. Additional contributions from Kilbourn ... Similar patterns of albinism and deafness have been found in other mammals, including dogs and rodents. However, a lack of ...

https://en.wikipedia.org/wiki/Melanin

Vogel P, Read RW, Vance RB, Platt KA, Troughton K, Rice DS (March 2008). "Ocular albinism and hypopigmentation defects in ... Frank Nicholas (2017-09-02). "OMIA 002124-9796: Coat colour, albinism, oculocutaneous type VI in Equus caballus". University of ... and another mutation can cause oculocutaneous albinism (OCA) type 6 (OCA6), which impairs vision. No vision impairment is seen ...

https://en.wikipedia.org/wiki/Tiger_eye

She is legally blind due to ocular albinism. In 2000, aged 28, she left her job in Accenture to launch the Aisling Foundation, ... Casey was diagnosed with ocular albinism as a child but was not personally informed until her 17th birthday. She graduated from ... People with albinism, Place of birth missing (living people), Year of birth uncertain, Alumni of University College Dublin, ...

https://en.wikipedia.org/wiki/Caroline_Casey_(activist)

TYRP2, for example, is important in the development of correct pigmentation; general and ocular albinism is associated with ... and the vestibulo-ocular reflex accordingly. The vestibulo-ocular reflex, one of the primary areas affected by ... Small KW, Pollock SC, Vance JM, Stajich JM, Pericak-Vance M (June 1996). "Ocular motility in North Carolina autosomal dominant ... These conditions do not consistently cause the symptoms of dizziness and ocular impairment that have been localized to the ...

https://en.wikipedia.org/wiki/Vestibulocerebellar_syndrome

Skinner has ocular albinism, a genetic condition that affects vision. He is the son of former England rugby player Mickey ... People with albinism, 1998 births, People from Tonbridge and Malling (district), British male long jumpers, Living people, ...

https://en.wikipedia.org/wiki/Zak_Skinner

Ocular albinism type 1 protein is a conserved integral membrane protein with seven transmembrane domains. It is expressed in ... 2006). "Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC". Ophthalmic Genet. 27 (2 ... 1996). "Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism". Hum. Mol. ... GeneReviews/NCBI/NIH/UW entry on Ocular Albinism, X-Linked v t e (Articles with short description, Short description matches ...

https://en.wikipedia.org/wiki/GPR143

"Ocular albinism: evidence for a defect in an intracellular signal transduction system". Nature Genetics. 23 (1): 108-12. doi: ...

https://en.wikipedia.org/wiki/GNAI1

Adie's pupil, which fails to constrict in response to light; aniridia, which is absence of the iris; and albinism, where the ... Hemeralopia is known to occur in several ocular conditions. Cone dystrophy and achromatopsia, affecting the cones in the retina ... Rarely, it may have ocular complications such as hemeralopia, pigmentary chorioretinitis, optic atrophy or retinal/iris ...

https://en.wikipedia.org/wiki/Hemeralopia

He made important contributions in the research of ocular albinism, retinitis pigmentosa and hereditary night blindness. Prior ...

https://en.wikipedia.org/wiki/Edward_Nettleship

ISBN 978-0-511-54574-0. Aniridia at eMedicine Ocular Manifestations of Albinism at eMedicine Imesch PD, Wallow IH, Albert DM ( ... NOAH - What is Albinism? Archived 14 May 2012 at the Wayback Machine. Albinism.org. Retrieved on 23 December 2011. Dave Johnson ... violet-colored eyes occur only due to albinism. Eyes that appear red or violet under certain conditions due to albinism are ... The ocular albino also lacks normal amounts of melanin in the retina as well, which allows more light than normal to reflect ...

https://en.wikipedia.org/wiki/Eye_color

She has ocular albinism and nystagmus, conditions she was born with, and is 156 centimetres (61 in) tall. Taylor has ...

https://en.wikipedia.org/wiki/Tyan_Taylor

... ocular albinism, optic atrophy, optic disk pallor, and optic nerve coloboma. The facial features of 1p36 deletion syndrome have ...

https://en.wikipedia.org/wiki/1p36_deletion_syndrome

"Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense ...

https://en.wikipedia.org/wiki/Morpholino

This gene is highly expressed in the retina, and is a strong candidate for ocular albinism type 1 syndrome. Alternatively ...

https://en.wikipedia.org/wiki/Shroom_family_member_2

The Nettleship-Falls syndrome, the most common type of ocular albinism, is named after him and English ophthalmologist Edward ...

https://en.wikipedia.org/wiki/Harold_Falls

... controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis". Molecular ...

https://en.wikipedia.org/wiki/Microphthalmia-associated_transcription_factor

... and optic neuronal defects shared in all types of oculocutaneous and ocular albinism". The Alabama Journal of Medical Sciences ... GeneReviews/NCBI/NIH/UW entry on Oculocutaneous Albinism Type 1 Tyrosinase at the US National Library of Medicine Medical ... 1087-1092, 1996 Witkop CJ (Oct 1979). "Albinism: hematologic-storage disease, susceptibility to skin cancer, ... Vitamin C Tranexamic acid While albinism is common, there have only been a few studies about the genetic mutations in the ...

https://en.wikipedia.org/wiki/Tyrosinase

Kavanagh is registered as blind, and was born with a complex visual impairment called ocular albinism, which has led to her ...

https://en.wikipedia.org/wiki/Amy_Kavanagh

1993). "The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and ... a novel gene for severe ocular malformations?". Mol. Vis. 13: 1475-82. PMID 17893649. Wapenaar MC, Bassi MT, Schaefer L, et al ... a novel gene for severe ocular malformations?". Mol. Vis. 13: 1475-82. PMID 17893649. GeneReview/NIH/UW entry on Microphthalmia ...

https://en.wikipedia.org/wiki/HCCS_(gene)

... ocular albinism 3 OPRM1: μ-opioid receptors (6q24-q25) OTSC7: otosclerosis 7 PLG: plasminogen (6q26) PBCRA1 PARK2: Parkinson ...

https://en.wikipedia.org/wiki/Chromosome_6

"Albinism". MedicinePlus Medical Encyclopedia. United States National Library of Medicine. Retrieved December 11, 2009. Harris, ... Fraunfelder, F. T.; Fraunfelder, F. W.; Edwards, R. (2001-09-01). "Ocular side effects possibly associated with isotretinoin ... Due to albinism, the lack of pigment in the colored part of the eyes (irises) makes them somewhat translucent. This means that ... "Ocular complications of cancer therapy: a primer for the ophthalmologist treating cancer patients". Curr Opin Ophthalmol. 20 (4 ...

https://en.wikipedia.org/wiki/Photophobia

Ocular albinism Oculocutaneous albinism Pallister-Killian syndrome Periorbital hyperpigmentation Photoleukomelanodermatitis of ... Albinism-black lock-cell migration disorder of the neurocytes of the gut-deafness syndrome (ABCD syndrome) Albinism-deafness ... ocular pemphigus, scarring pemphigoid) Dermatitis herpetiformis (Duhring disease) Endemic pemphigus (endemic pemphigus ... partial albinism with immunodeficiency) Griscelli syndrome type 3 Hemochromatosis (bronze diabetes) Hemosiderin ...

https://en.wikipedia.org/wiki/List_of_skin_conditions

... disease Ocular albinism Ocular coloboma-imperforate anus Ocular convergence spasm Ocular histoplasmosis Ocular melanoma Ocular ... Oculocutaneous albinism type 1 Oculocutaneous albinism type 2 Oculocutaneous albinism type 3 Oculocutaneous albinism, ... tyrosinase negative Oculocutaneous albinism, tyrosinase positive Oculocutaneous tyrosinemia Oculodental syndrome Rutherfurd ... motility disorders Ocular toxoplasmosis Oculo-auriculo-vertebral spectrum Oculo cerebral dysplasia Oculo cerebro acral syndrome ...

https://en.wikipedia.org/wiki/List_of_diseases_(O)

Microcephaly l Microcephaly albinism digital anomalies syndrome Microcephaly autosomal dominant Microcephaly brachydactyly ... short stature hypertelorism Mental retardation short stature microcephaly eye Mental retardation short stature ocular and ...

https://en.wikipedia.org/wiki/List_of_diseases_(M)

Since the locus encoding human SHROOM2 lies within the critical region for two distinct forms of ocular albinism, it is ...

https://en.wikipedia.org/wiki/Shroom_protein_family

Spastic ataxia-corneal dystrophy syndrome Spider lamb syndrome Splenic flexure syndrome Split hand syndrome Spondylo-ocular ... loop syndrome Aicardi syndrome Aicardi-Goutières syndrome AIDS dysmorphic syndrome Al-Raqad syndrome Alagille syndrome Albinism ... Noonan syndrome Norman-Roberts syndrome Northern epilepsy syndrome Nutcracker syndrome Occipital horn syndrome Ocular ischemic ... Potter sequence Prader-Willi syndrome Pre-excitation syndrome Precordial catch syndrome Premenstrual syndrome Presumed ocular ...

https://en.wikipedia.org/wiki/List_of_syndromes

This gene is mapped in close proximity to APXL (Apical protein Xenopus laevis-like) and OA1 (Ocular albinism type I), which are ... between the loci for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects syndrome (MLS)". Hum. Genet. 95 ...

https://en.wikipedia.org/wiki/CLCN4

Eye manifestations: Bilateral ocular manifestations are usually pathognomonic of the disease. In the case of children who ... Lubin, J. R. (1981). Oculocutaneous Albinism Associated with Corneal Mesodermal Dysgenesis. American Journal of Ophthalmology, ... To explain the ocular alterations, there is a theory of the mechanism postulated by Shields et al., which implies an arrest in ... characterized by ocular and systemic diseases, affecting multiple organs that have in common their origin in the neural crest. ...

https://en.wikipedia.org/wiki/Axenfeld–Rieger_syndrome

"Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism" by Lee, S.-T., ...

https://en.wikipedia.org/wiki/Renata_Laxova

ocular pigmentation is an accumulation of pigment in the eye, and may be caused by latanoprost medication. Vitiligo is a ... Albinism is an inherited disorder characterized by total or partial loss of melanin. Humans and animals that suffer from ... albinism are called "albinistic" (the term "albino" is also sometimes used, but may be considered offensive when applied to ...

https://en.wikipedia.org/wiki/Biological_pigment

Albinism 793..........................................Congenital disorders of the skin. Nevi. Moles 138 ... Ocular therapeutics 110-320...................................Otology. Diseases of the ear 341-437 ...

https://en.wikipedia.org/wiki/Library_of_Congress_Classification:Class_R_--_Medicine

Asthma Atopic dermatitis Atopic eczema Hay fever Urticaria Vernal conjunctivitis Acne rosacea Albinism Atopic dermatitis ... An ocular manifestation of a systemic disease is an eye condition that directly or indirectly results from a disease process in ... There are many diseases known to cause ocular or visual changes. Diabetes, for example, is the leading cause of new cases of ... Mehta, Salil; Jiandani, Prakash (September 2007). "Ocular features of hantavirus infection". Indian Journal of Ophthalmology. ...

https://en.wikipedia.org/wiki/List_of_systemic_diseases_with_ocular_manifestations

... such as albinism, traumatic injury, or surgical removal due to ocular melanoma. The artificial iris is a surgically implanted ... Defects in the PAX6 gene cause aniridia-like ocular defects in mice (as well as Drosophila). Aniridia is a heterozygous ... Vision may be severely compromised and the disorder is frequently associated with a number of ocular complications: nystagmus, ... as well as other non-ocular structures). This PAX6 gene is around 95% similar to the pax gene found in zebrafish, a creature ...

https://en.wikipedia.org/wiki/Aniridia

Albinism Albino and white squirrels Amelanism Black squirrel Black swan Erythrism Isabellinism Heterochromia iridum Leucism, a ... an unusual yellow colouration in animals Peutz-Jeghers syndrome Ocular melanosis Melanosis Morales, E. (1995). The Guinea Pig ...

https://en.wikipedia.org/wiki/Melanism

"The protein Ocular albinism 1 is the orphan GPCR GPR143 and mediates depressor and bradycardic responses to DOPA in the nucleus ...

https://en.wikipedia.org/wiki/L-DOPA

Ocular albinism is a genetic condition that primarily affects the eyes. Explore symptoms, inheritance, genetics of this ... Genetic Testing Registry: Ocular albinism with late-onset sensorineural deafness *Genetic Testing Registry: Ocular albinism, ... The most common form of ocular albinism is known as the Nettleship-Falls type or type 1. Other forms of ocular albinism are ... medlineplus.gov/genetics/condition/ocular-albinism/ Ocular albinism. ...

https://medlineplus.gov/genetics/condition/ocular-albinism/

About 1 in 17,000 people is affected by some form of albinism. There are three types of oculocutaneous albinism based on the ... These types of oculocutaneous albinism have different prevalence in the population. To estimate the albinism statistics in a ... Provides the prevalence of ocular and oculocutaneous albinism in the population. ... Ocular Albinism Statistics. Ocular albinism accounts for 10 to 15 % of albinism cases. An individual with this type of albinism ...

http://www.thebrightesthub.com/statistics-for-oculocutaneous-and-ocular-albinism/

Albinism, Oculocutaneous, Type III. Clinical Characteristics. Ocular Features: The irides may be multicolored with the central ... Oculocutaneous albinism. Gronskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis. 2007 Nov 2;2:43. ... This tyrosinase-positive type of albinism is sometimes called rufous (ROCA) or brown (BOCA) oculocutaneous albinism and is ... Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene. Manga P, Kromberg JG, Box ...

https://disorders.eyes.arizona.edu/category/alternate-names/albinism-iii

Albinism results from defective production of melanin from tyrosine through a complex pathway of metabolic reactions. ... Albinism consists of a group of inherited abnormalities of melanin synthesis and are typically characterized by a congenital ... Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med. ... Albinism and the associated ocular defects. Metab Pediatr Syst Ophthalmol. 1994. 17(1-4):5-9. [QxMD MEDLINE Link]. ...

https://www.medscape.com/answers/1200472-193084/what-is-oculocutaneous-albinism-2-oca-2

Albinism results from defective production of melanin from tyrosine through a complex pathway of metabolic reactions. ... Albinism consists of a group of inherited abnormalities of melanin synthesis and are typically characterized by a congenital ... These ocular changes are common to all types of albinism.. Classification of albinism. Traditionally, albinism has been ... Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med. ...

http://emedicine.medscape.com/article/1200472-overview

My 6 month old nephew was recently diagnosed with ocular albinism. The opthamalogist told his mom that he is farsighted and ... My 6 month old nephew was recently diagnosed with ocular albinism. The opthamalogist told his mom that he is farsighted and ... Ocular Albinism. Discussion in Introductions started by Happy 1811, Nov 4, 2015. ...

https://www.optometryforums.com/threads/ocular-albinism.18523/

Raval V, Rao S, Das T. Ocular albinism with bilateral ocular coloboma - A rare association. Indian Journal of Ophthalmology. ...

https://imsear.searo.who.int/handle/123456789/197154

Albinism keeps the body from making enough of a chemical called melanin, which gives ... Raymond & J Renée are sharing information about Albinism for Albinism Awareness!International. ... Ocular albinism type I (OA1), or X-linked ocular albinism, is one of the prevalent disorders of ocular albinism. Typically, it ... Albinism and the Eyes Arizona RETINA Projec Ocular albinism. However, only eyes are affected in ocular albinism. These people ...

https://hastprogram.com/albino-people7-e632gv2m2h

Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)-an update *Abdullah Aamir ...

https://www.nature.com/ejhg/articles?type=clinical-utility-gene-card&error=cookies_not_supported&code=7be0f6cc-4db1-4ef7-9b03-646c4599e8e3

In oculocutaneous albinism (OCA), pigment is lacking in the eyes, skin and hair. In ocular albinism, only the eyes lack pigment ... Treatment of Oculocutaneous/Ocular Albinism and for Increasing Pigmentation. Primary tabs. *View published(active tab) ... Albinism (also called achromia, achromasia, or achromatosis) is a congenital disorder characterized by the complete or partial ... Patients with albinism experience varying degrees of vision loss associated with foveal hypoplasia, nystagmus, photophobia and/ ...

https://techtransfer.cancer.gov/availabletechnologies/e-113-2010

Mutation of GPR143 Associated With Ocular Albinism Type 1, Intellectual Disability, and Schizophrenia: The Complex Biological ...

https://journals.lww.com/practicalpsychiatry/pages/default.aspx

Ocular albinism. Occasional [IBIS] Occasional [Orphanet] 6% (n=42) 18245432 IBIS 40 / 7739 ... retinal albinism, and optic nerve coloboma have occasionally been observed [Battaglia et al 2008]. ...

http://mips.helmholtz-muenchen.de/phenodis/disease/show/1020

X-linked Ocular Albinism : X-linked Ocular Albinism is categorized as a rare diseas.... X-linked Recessive Ocular Albinism : ... XLOA : See X-linked Ocular Albinism.. XLP : See X-Linked Lymphoproliferative Disease.. XX Gonadal Dysgenesis : XX Gonadal ... See X-linked Ocular Albinism.. X-Linked RS : See Juvenile X-Linked Retinoschisis.. XALD : See Adrenoleukodystrophy.. ...

https://www.psychforums.com/definition/dictionary-letter-X.htm

A person with ocular albinism, for example, prefers the minimum contrast possible. ... While nothing will ever completely eliminate my ocular fatigue and pain, less eye strain means I can write more - eye. strain ...

https://tidbits.com/2013/08/02/make-text-more-readable-with-solarized-and-cousine/

Albinism is a condition marked by reduced production of melanin, the pigment that provides color to the hair, skin, and eyes of ... X-linked ocular albinism refers to the location of the albinism gene, which is on the X chromosome. Women have two X ... X-linked ocular albinism is much more common in males and is passed on from women who have the gene but do not show symptoms to ... Ocular albinism: decreased pigment primarily in the eyes, with minimal change to the hair and skin color. ...

https://www.news-medical.net/health/Albinism-Partial-Absence-of-Pigment-in-the-Skin.aspx

Hypopigmentation - Albinism. *. Lentigines - Lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary ... Albinism is due to defects in the biosynthesis and distribution of melanin. Oculocutaneous albinism is an autosomal recessive ...

https://emedicine.medscape.com/article/856116-clinical

David and Sonia say they were "floored" when they discovered their son Jack had ocular albinism. They found out about his ...

https://www.visionaustralia.org/services/find-services/children/early-years

... is what his mother called his ocular albinism. Her words were of little comfort, but Sam persevered. Sam believed it was God ...

https://www.audible.ca/

Following intense testing he was diagnosed with ocular albinism at the age of 19. This is a genetic condition which includes ...

https://swindonlink.com/business-brief/imagine-cruising-sponsors-chris-hunt-skelley/

More than 350 ocular diseases have some sort of genetic component. Certain diseases, like retinitis pigmentosa and albinism, ...

https://www.parmereyecare.com/2021/03/22/are-you-at-risk-for-vision-loss-2021/

Kallman syndrome and ocular albinism[39].. One explanation for the deletion of the STS gene and flanking sequences on the short ... Ocular manifestations of ichthyosis. Br J Ophthalmol. 1968;52:217-226. [PubMed] [DOI] [Cited in This Article: ] [Cited by in ... Costagliola C, Fabbrocini G, Illiano GM, Scibelli G, Delfino M. Ocular findings in X-linked ichthyosis: a survey on 38 cases. ... Piccirillo A, Auricchio L, Fabbrocini G, Parenti G, Ballabio A, Delfino M. Ocular findings and skin histology in a group of ...

https://www.wjgnet.com/2218-6190/full/v4/i3/129.htm

We Wear Rainbow Heart For Ocular Albinism Awareness Tank Top by luxembourgertreatable ...

https://www.teepublic.com/tank-top/awareness

albinism, oculocutaneous, type vii. 11.0. 28. ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain ... Wikipedia 75 Hypomelanotic disorder: Albinism is the congenital absence of melanin in an animal or plant resulting in white ... Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained by HbS/βthal genotype in an individual ... linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies. 11.2. ...

https://www.malacards.org/card/dilution_pigmentary

76 13 83 Albinism (ocular) 76 14 00 Dialysis, retina, congenital 76 14 00 Disinsertion, retina, congenital 76 15 00 Color ... secondary to other ocular disease (punctate). /Code also the other ocular disease/ 67 75 01 Keratitis sicca, congenital ( ... If CVA is reported in Section A, assume ocular impairment unless examiner specifically states there was none/ 99 00 81 Disease ... ITEM DESCRIPTION & CODES Counts HANES I Data Source 225 SIGNIFICANT OCULAR HISTORY 1 - Yes 1291 2 - No 8592 Blank 244 226- ...

https://wonder.cdc.gov/wonder/sci_data/surveys/hanes/hanes1/type_txt/h1optha.asp

Cortical visual field representations in patients with albinism and female carriers of ocular albinism assessed with multifocal ... and female carriers of ocular albinism. Investigative Ophthalmology & Visual Science. 47: 3195-201. PMID 16799067 DOI: 10.1167/ ... Retinotopic organization of the visual cortex in human albinism Journal of Vision. 2: 581a. DOI: 10.1167/2.7.581 0.705. ... Retinotopic organisation of the visual cortex in human albinism Journal of Vision. 2: 46a. DOI: 10.1167/2.10.46 0.69. ...

https://neurotree.org/beta/publications.php?pid=7589

Foveal hypoplasia is an ocular abnormality in which the foveal pit either fails to develop, or does not completely develop. ... Multiple gene mutations have been linked to ocular albinism, with and without cutaneous involvement. ... There are other genes that cause ocular diseases that are associated with foveal hypoplasia as a symptom of the main disease. ... Foveal hypoplasia is an ocular abnormality in which the foveal pit either fails to develop, or does not completely develop, and ...

https://eyewiki.aao.org/Foveal_Hypoplasia

Albinism can affect the skin, hair, and eyes (Schwartz, 2010). Albinism may affect only the eyes (ocular) or may affect the ... Effects on Vision: Albinism varies widely in its severity, but individuals with albinism have reduced visual acuity, reduced or ... Nystagmus may be congenital (from birth or shortly after), secondary to other eye conditions (e.g., albinism), or acquired ( ... Educational Implications: Students with albinism may benefit from the use of low vision aids and control of environmental light ...

https://prcvi.org/resources/resources-for-teachers/visual-conditions/

Vitiligo and albinism are two skin conditions characterized by a defect in skin pigmentation, with some differences ... Ocular albinism. Instead, ocular albinism mainly affects the eyes. This type of albinism is caused by a reduction and altered ... There are two types of albinism: oculocutaneous and ocular.. People with albinism have a lack of the pigmented melanin that is ... What is albinism?. Albinism is a hereditary condition of recessive genetic alleles (two or more alternative forms of the same ...

https://www.vitiligo.com/differences-between-vitiligo-and-albinism/

Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular albinism. ORPHA:54. Cataract 5, Multiple Types. ...

https://www.mousephenotype.org/data/genes/MGI:99502

There are two forms of albinism: the Oculocutaneous albinism (OCA) and Ocular albinism. (thebrightesthub.com)
Oculocutaneous albinism is the most common form of albinism with symptoms affecting the skin, eyes, and hair. (thebrightesthub.com)
Photophobia is less severe than in other types of oculocutaneous albinism, possibly because the vast majority of individuals (86%) have some pigmentation in the fundus. (arizona.edu)
However, the hair is often copper-red in color which has given rise to the designation rufous oculocutaneous albinism. (arizona.edu)
This tyrosinase-positive type of albinism is sometimes called 'rufous' (ROCA) or 'brown' (BOCA) oculocutaneous albinism and is frequently found in dark-skinned individual such as Africans, African-Americans, and Hispanics. (arizona.edu)
Gronskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism . (arizona.edu)
Manga P, Kromberg JG, Box NF, Sturm RA, Jenkins T, Ramsay M. Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene . (arizona.edu)
Traditionally, albinism has been classified according to clinical phenotype, and the 2 main categories are oculocutaneous albinism (OCA) and ocular albinism (OA). (medscape.com)
The National Eye Institute's Ophthalmic Genetics and Visual Function Branch seeks interested commercial parties to co-develop the use of nitisinone (NTBC) for oculocutaneous albinism or as a treatment for increasing pigmentation in the eyes, hair and/or skin of patients. (cancer.gov)
In oculocutaneous albinism (OCA), pigment is lacking in the eyes, skin and hair. (cancer.gov)
Brooks, B.P. Nitisinone for Type 1B Oculocutaneous Albinism. (cancer.gov)
There are several subtypes of oculocutaneous albinism that vary in severity. (prcvi.org)
Oculocutaneous albinism gives variable ocular signs, including nystagmus, photophobia and reduced visual acuity. (vitiligo.com)
Oculocutaneous albinism (OCA) affects pores and skin and hair shade. (musicmarkup.info)
Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypo-pigmentation of skin, hair, and eyes. (biomedcentral.com)
Oculocutaneous albinism (OCA) is an autosomal recessive disorder that occurs due to deficiency of melanin biosynthesis resulting in generalized hypo-pigmentation of skin, eyes, and hair [ 1 ]. (biomedcentral.com)
Bleeding diathesis: The most important questions when evaluating a patient with oculocutaneous albinism (OCA) are as follows: Do you bruise easily? (medscape.com)
In 1959, Hermansky and Pudlak described two patients with oculocutaneous albinism (OCA) who had bleeding diathesis. (medscape.com)
Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of autosomal recessive disorders characterized by tyrosinase-positive oculocutaneous albinism (Ty-pos OCA), bleeding tendencies, and systemic complications associated to lysosomal dysfunction. (medscape.com)
An increase in the pigmentation of the skin and/or the hair may occur with age, especially in individuals who are mildly affected specifically with the non-oculocutaneous albinism type 1 subtypes. (medscape.com)
Oculocutaneous albinism type 1 primarily manifests with complete absence of pigment in the skin, the hair, and the eyes, and this category is termed oculocutaneous albinism type 1A. (medscape.com)
[ 20 ] However, some patients can present with moderate pigmentation in these tissues (termed oculocutaneous albinism type 1B) or pigment in hair follicles of the cooler areas of the body, such as the arms and the legs (termed oculocutaneous albinism type 1TS, ie, temperature sensitive). (medscape.com)
All forms of oculocutaneous albinism type 1 also present with photophobia, moderate-to-severe reduced visual acuity, and nystagmus. (medscape.com)
Oculocutaneous albinism type 2 does not present with complete absence of pigment but rather manifests with a minimal-to-moderate amount of pigment remaining in the skin, the hair, and the eyes. (medscape.com)
Many patients with oculocutaneous albinism type 2 can develop pigmented freckles, lentigines, and/or nevi with age. (medscape.com)
The ocular presentations are similar to those in oculocutaneous albinism type 1. (medscape.com)
Oculocutaneous albinism type 3 manifests with minimal pigment reduction in the skin, the hair, and the eyes. (medscape.com)
Hair coloration of individuals with oculocutaneous albinism type 3 generally has a yellow or reddish hue. (medscape.com)
The ocular presentations are similar to those in oculocutaneous albinism type 1, but they are not as severe. (medscape.com)

Unlike some other forms of albinism, ocular albinism does not significantly affect the color of the skin and hair. (medlineplus.gov)
Patients with more severe forms of albinism with cutaneous manifestations are easier for a physician to diagnose compared with those with more subtle forms or those with ocular albinism. (medscape.com)
The ophthalmologist plays an important role in detecting albinism because most forms of albinism present with ocular features as the primary morbidity. (medscape.com)
Certain forms of albinism are known to be due to mutations in tyrosine metabolism. (cancer.gov)
NEI investigators identified administration of NTBC to subjects (e.g., mice or humans) with certain forms of albinism, can result in increased circulating tyrosine levels, an increase in tyrosinase activity, and, subsequently, increased pigmentation. (cancer.gov)
Implementation of a next-generation sequencing panel of genes to identify deleterious variants in patients with incomplete forms of albinism. (medifind.com)

Albinism consists of a group of inherited abnormalities of melanin synthesis and are typically characterized by a congenital reduction or absence of melanin pigment. (medscape.com)
Albinism results from defective production of melanin from tyrosine through a complex pathway of metabolic reactions. (medscape.com)
The phenotypic heterogeneity of albinism is due to the different gene mutations affecting various points along the melanin pathway, resulting in varying degrees of decreased melanin production. (medscape.com)
The presence of melanin during ocular development is important. (medscape.com)
Albinism keeps the body from making enough of a chemical called melanin, which gives eyes, skin, and hair their color. (hastprogram.com)
Sources Albinism is a group of inherited disorders that results in little or no production of the pigment melanin, which determines the color of the skin, hair and eyes. (hastprogram.com)
Albinism is a gene mutation in one of several genes significant in the synthesis of proteins that produce melanin. (hastprogram.com)
Melanin is produced by cells found in your skin and eyes Albinism. (hastprogram.com)
Albinism affects the production of melanin, the pigment that colours skin, hair and eyes. (hastprogram.com)
People with albinism have a reduced amount of melanin, or no melanin at all. (hastprogram.com)
Albinism is a genetic disorder that reduces melanin pigment in the skin, hair and/or eyes. (hastprogram.com)
Historically, ocular albinism is an inherited disorder in which the eyes are deficient in the amount of melanin, which gives the eye its color or pigment, while the skin and hair appear normal or near normal in coloration. (hastprogram.com)
Albinism (also called achromia, achromasia, or achromatosis) is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect in any one of a number of proteins involved in the production of melanin. (cancer.gov)
Albinism is a condition marked by reduced production of melanin, the pigment that provides color to the hair, skin, and eyes of an individual. (news-medical.net)
[21] [22] Melanin synthesis genes, retinal vascularization genes, and procollagen genes which cause albinism, familial exudative vitreoretinopathy and stickler syndrome respectively, all also have a high association with also having foveal hypoplasia as an ocular symptom of their disease. (aao.org)
Albinism is an inherited disorder where melanin (pigment) is decreased or absent. (prcvi.org)
Albinism is a congenital disease characterized by the complete or partial absence of melanin. (vitiligo.com)
This type of albinism is caused by a reduction and altered distribution of the melanin pigment in the eye, particularly in the iris and retina. (vitiligo.com)
As mentioned above, albinism is the complete or partial absence of melanin, in vitiligo it is only a part of the skin that loses pigment . (vitiligo.com)
So far, there is not any solution to complement melanin in people with albinism or to pressure the physique to make it. (musicmarkup.info)
They are not freckles or spots of melanin, explains William Oetting, a professor on the University of Minnesota who has researched albinism genetics. (musicmarkup.info)
Purpose: The purpose of this thesis is to provide a comprehensive literature review about albinism as an inherited metabolic disorder of melanin synthesis along with those related conditions impacting the visual system. (bsz-bw.de)
Melanin biosynthesis can be disrupted by different genes in various ways which leads to the current classification of albinism. (bsz-bw.de)
In humans, the term albinism refers to a group of inherited conditions where there is little or no production of the pigment melanin in the skin, hair and/or eyes. (albinismalliance.org)
Very rare red and "violet" eyes (typical in albinism, as pictured above) come from a total lack of melanin in all layers of the iris, so the color is a combination of Tyndall scattering and the blood vessels being more visible. (broadwayvision.com)

Those affected by this condition manifest varying degrees of hypopigmentation and vision-related disability Albinism is a rare group of genetic disorders that are often characterized by decreased pigment in the skin or eyes. (hastprogram.com)
Dilution, Pigmentary, also known as hypopigmentation , is related to oculocerebral syndrome with hypopigmentation and tietz albinism-deafness syndrome , and has symptoms including achromia of skin The drugs Fluorouracil and Antimetabolites have been mentioned in the context of this disorder. (malacards.org)
Patient presenting a clinical diagnosis of incomplete form of albinism with presence of at least 2 signs of ocular albinism among which nystagmus, low vision, foveal hypoplasia, retinal hypopigmentation, translucent irides, misrouting of the optic nerves at the chiasm. (medifind.com)
Conclusions: Albinism is caused by genetic mutations resulting in ocular and cutaneous hypopigmentation. (bsz-bw.de)
National Association for Albinism and Hypopigmentation. (lawrightmd.com)
The characteristic hypopigmentation of albinism is apparent at birth. (medscape.com)
In addition, patients with ocular albinism present with congenital motor nystagmus that may be accompanied by reduced visual acuity, refractive errors, fundus hypopigmentation, lack of foveal reflex, and strabismus. (medscape.com)

An individual with this type of albinism lacks pigmentation in the irises and has vision problems. (thebrightesthub.com)
Occasionally, a moderate amount of residual activity can lead to near normal skin pigmentation and the wrong diagnosis of ocular albinism. (medscape.com)
Lack of skin pigmentation makes for more susceptibility to sunburn and skin cancers Albinism is an abnormality of pigmentation of the hair, skin, or/and the eyes. (hastprogram.com)
Click below to download the full Accessible Fact Sheets for Age related macular degeneration Albinism is the congenital absence of any pigmentation or colouration in an animal, plant, or person, resulting in white hair, feathers, scales and skin and pink eyes in mammals, birds, reptiles, amphibians and fish and invertebrates as well Albinism is an inherited condition . (hastprogram.com)
The lack of pigmentation in the skin also increases the risk of sunburn and skin cancer in people with albinism. (news-medical.net)
The retrospective cohort study of collected clinical, genetic and electrophysiological data of 522 albinism patients found that only their foveal hypoplasia grading scheme, based on spectral domain optical coherence tomography (SD-OCT) images, correlated best with VA. Iris translucency, fundus pigmentation and misrouting grading schemes were not able to predict VA. The VA of the cohort varied from -0.1logMAR to 1.3logMAR. (reviewofoptometry.com)
Mice, as well as humans who have albinism or lack of pigmentation, have profound vision loss and changes in the eye structure , especially the macula, the oval-shaped area near the center of the retina associated with a person's ability to see clearly. (eurekalert.org)
Race and ocular pigmentation are known risk factors for developing AMD, indicating darker pigmentation may protect from the disease as it occurs much, much more frequently in the white population than black or Hispanic populations. (eurekalert.org)
People with albinism generally look different from their families because their skin and hair lack the usual amount of pigmentation. (albinismalliance.org)
The reduction of cutaneous and ocular pigmentation may only be apparent in comparison with the complexion coloration of family members. (medscape.com)

Ocular albinism is characterized by severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth (stereoscopic vision). (medlineplus.gov)
Foveal hypoplasia is an ocular abnormality in which the foveal pit either fails to develop, or does not completely develop, and is associated with poor visual acuity and nystagmus. (aao.org)
Albinism varies widely in its severity, but individuals with albinism have reduced visual acuity, reduced or no depth perception, and sensitivity to light and glare (Schwartz, 2010) as well as nystagmus (Cassin & Rubin, 2012, p. 27). (prcvi.org)
The set of major and minor criteria was a result of a study that described the phenotypic spectrum of a large cohort of albino patients and investigated the relationship between the ocular abnormalities and visual acuity (VA). (reviewofoptometry.com)

Albinism is associated with a number of vision defects, such as photophobia, nystagmus, and amblyopia. (hastprogram.com)
Patients with albinism experience varying degrees of vision loss associated with foveal hypoplasia, nystagmus, photophobia and/or glare sensitivity, refractive errors, and abnormal decussation of ganglion cell axons at the optic chiasm. (cancer.gov)

Several types of albinism are recognized. (medscape.com)
These ocular changes are common to all types of albinism. (medscape.com)

As shown in Table 2, two major disorders exist in this category, ocular albinism 1 (OA 1) and autosomal recessive ocular albinism (AROA). (medscape.com)
Asper Ophthalmics is a comprehensive collection of genetic tests targeted at the diagnostics of a wide variety of hereditary ocular disorders, including retinal disorders , corneal dystrophies , and age related ophthalmic conditions . (asperbio.com)

Ocular albinism type 1 results from mutations in the GPR143 gene. (medlineplus.gov)
Rare cases of ocular albinism are not caused by mutations in the GPR143 gene. (medlineplus.gov)
In males (who have only one X chromosome), one altered copy of the GPR143 gene in each cell is sufficient to cause the characteristic features of ocular albinism. (medlineplus.gov)
Cortese K, Giordano F, Surace EM, Venturi C, Ballabio A, Tacchetti C, Marigo V. The ocular albinism type 1 (OA1) gene controls melanosome maturation and size. (medlineplus.gov)
New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. (medlineplus.gov)
Ocular albinism is an X-linked genetic disorder, meaning the defective gene (GPR143 gene) is located in the X chromosome. (thebrightesthub.com)
A male automatically develop ocular albinism once he inherits an X chromosome with the defective gene. (thebrightesthub.com)
Females have lower chance of inheriting the gene for ocular albinism than males. (thebrightesthub.com)
OCA 1B (yellow mutant OCA, Amish albinism, xanthous albinism) is produced by leaky mutations of the tyrosinase gene that result in reduced/residual enzyme activity. (medscape.com)
Albinism is passed on via a gene mutation from parents to children. (news-medical.net)
X-linked ocular albinism refers to the location of the albinism gene, which is on the X chromosome. (news-medical.net)
X-linked ocular albinism is much more common in males and is passed on from women who have the gene but do not show symptoms to the son who only has one X-chromosome. (news-medical.net)
A multicenter observational study of 907 patients found that the most common genetic etiology for typical foveal hypoplasia was albinism (67.5%), followed by PAX6 (21.8%), SLC38A8 (6.8%), and FRMD7 (3.5%) gene variants. (aao.org)
[16] Multiple gene mutations have been linked to ocular albinism , with and without cutaneous involvement. (aao.org)
Albinism is a hereditary condition of recessive genetic alleles (two or more alternative forms of the same gene found in the same position on each homologous chromosome), and is commonly an autosomal recessive disorder . (vitiligo.com)

Researchers are uncertain how these giant melanosomes are related to vision loss and other eye abnormalities in people with ocular albinism. (medlineplus.gov)
The intraocular implant is used to treat or alleviate cases of heterochromia, ocular albinism, and other iris-related abnormalities by protecting the eyes from the harmful effects of sunlight in patients who suffer from high levels of photosensitivity. (pigmentdisorders.com)
Study observing ocular abnormalities and VA leads to new criteria. (reviewofoptometry.com)

Statistically, about 1 in 17,000 people suffer from some form of albinism. (thebrightesthub.com)
Ocular albinism is a form of albinism that affects only the eyes. (w-servis.ru)
This form of albinism was previously referred to as Rufous albinism and possibly Brown albinism. (medscape.com)
Griscelli syndrome manifests with a mild form of albinism (ie, pale skin). (medscape.com)

Most people with ocular albinism have blue eyes. (hastprogram.com)

Albinism is a symptom of Waardenberg syndrome, Chediak-Higashi syndrome, tuberous sclerosis, and Hermansky-Pudlak syndrome. (thebrightesthub.com)
The overlapping syndromic albinism such as Hermansky-Pudlak syndrome (HPS), Griscelli syndrome (GS), and Chediak-Higashi syndrome (CHS) have also been reported. (biomedcentral.com)
A wide ocular phenotypic variety exists in patients with Hermansky-Pudlak syndrome. (medscape.com)

[5] [6] Other conditions were later discovered to be associated with foveal hypoplasia, including macular aplasia, macular coloboma, and albinism. (aao.org)
A cross-sectional study by Noval et al with 286 healthy children found that up to 3% of children had an anatomically underdeveloped foveal pit bilaterally on OCT. [10] Because foveal hypoplasia is commonly associated with a number of ocular diseases, there does not seem to be a widely accepted standalone statistic on its prevalence or incidence in isolation. (aao.org)
There are other genes that cause ocular diseases that are associated with foveal hypoplasia as a symptom of the main disease. (aao.org)

Raval V, Rao S, Das T. Ocular albinism with bilateral ocular coloboma - A rare association. (who.int)
[1] It may present in isolation or be associated with other conditions such as albinism, coloboma, optic nerve hypoplasia, retinopathy of prematurity, and aniridia. (aao.org)
BrightOcular is the only intraocular implant invented in the United States that can be used to permanently cover up iris defects such as coloboma, aniridia, ocular albinism, and eye trauma. (pigmentdisorders.com)

As albinism is an inherited condition, it is important that affected individuals and their families receive adequate information about the genetics of the disorder for future family planning. (news-medical.net)

The albinism subtypes were reclassified in 2009. (medscape.com)

This can affect their colouring and their eyesight Albinism can include skin and eye complications as well as social and emotional challenges. (hastprogram.com)
Remedies for albinism complications are readily obtainable. (musicmarkup.info)

Ocular albinism manifests with ocular depigmentation and iris translucency. (medscape.com)

In ocular albinism, only the eyes lack pigment. (cancer.gov)

Researchers in the Netherlands have devised a set of clinical criteria to distinguish albinism from other conditions with similar ocular features. (reviewofoptometry.com)
Researchers concluded that without an established set of criteria, a clinical diagnosis of albinism might be difficult to establish because none of the characteristics observed were consistently present in their cohort. (reviewofoptometry.com)

The latter two ocular dysfunctions result from a misrouting of the optic fibers from the retina to the visual cortex of the brain. (medscape.com)

The following is a brief overview of the current classification of albinism. (medscape.com)

Albinism is a congenital disorder characterized in humans by the complete or partial absence of pigment in the skin, hair and eyes. (hastprogram.com)
Retrieved on November 28, 2022 from https://www.news-medical.net/health/Albinism-Partial-Absence-of-Pigment-in-the-Skin.aspx. (news-medical.net)
Reduced or absent pigment in the skin makes the person with albinism more vulnerable to the harmful effects of the sun and more susceptible to suffer from skin cancers. (albinismalliance.org)
People with albinism generally look significantly different than their families due to the lack of pigment in the skin. (albinismalliance.org)

Ocular albinism is a genetic condition that primarily affects the eyes. (medlineplus.gov)
Instead, ocular albinism mainly affects the eyes. (vitiligo.com)

Even worse for Africans with albinism, harmful myths are circulating in Kenya, Tanzania, Zimbabwe and other nations that perpetuate the raping, killing and dismemberment of people with albinism. (musicmarkup.info)
Struggle to protect East Africans living with albinism against culture of … In East Africa, ritual magic, witchcraft and superstition play a large part in the everyday life of many people. (pigmentdisorders.com)

There are also certain diseases with albinism as a symptom. (thebrightesthub.com)
More than 350 ocular diseases have some sort of genetic component. (parmereyecare.com)
Certain diseases, like retinitis pigmentosa and albinism, are directly inherited through chromosomal information. (parmereyecare.com)

With respect to ocular complaints, patients typically report decreased central vision and photophobia. (medscape.com)

From 2007 to 2010, Tanzania saw record numbers of killings and attacks against persons with albinism. (pigmentdisorders.com)
The difference in appearance is exacerbated when there is a high degree of contrast between the skin tone of persons with albinism and that of the dominant population in their community. (albinismalliance.org)
An additional ground for stigma is attached to the disability caused by the low vision of persons with albinism. (albinismalliance.org)
Persons with albinism are therefore exposed to the intersecting discrimination of both disability and color, with significant psychosocial impact This bias ranges from teasing and social exclusion to discrimination in school and employment. (albinismalliance.org)
In numerous countries around the world, witchcraft-related beliefs and practices are an underlying cause of considerable violence against persons with albinism. (albinismalliance.org)
In Africa, where myths about them being ghosts, their body parts having supernatural powers or an ability to curse or cure, are widespread, persons with albinism live in fear of kidnappings, mutilations, killings and grave desecrations. (albinismalliance.org)
Albinism organizations generally gather persons with albinism, their families, doctors and teachers to share information and support relative to the condition. (albinismalliance.org)
When attacks on persons with albinism in countries of Eastern and Southern Africa were relayed by international media in early 2000, the serious human rights concerns linked to albinism in these regions could no longer be ignored. (albinismalliance.org)

reported the incidence of albinism is 1:17,000 in the Western population (North America & Europe). (biomedcentral.com)

An individual with albinism is commonly called "albino. (thebrightesthub.com)
It can affect individuals from any racial background and, in most cases, the parents of the individual with albinism do not have physical signs of the condition. (news-medical.net)
The production of pigment and vision development of an individual with albinism cannot be cured. (news-medical.net)

The most common form of ocular albinism is known as the Nettleship-Falls type or type 1. (medlineplus.gov)

Optical coherence tomography in patients with albinism shows that patients with OCA (all types included) have thicker foveas than the general population. (medscape.com)

Anatomy17

Organisms2

Diseases37

Chemicals and Drugs13

Analytical, Diagnostic and Therapeutic Techniques and Equipment9

Psychiatry and Psychology2

Phenomena and Processes17

Anthropology, Education, Sociology and Social Phenomena2

Health Care1

Geographicals3

Albinism: its implications for refractive development. (1/72)

Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1. (2/72)

Expression pattern of the ocular albinism type 1 (Oa1) gene in the murine retinal pigment epithelium. (3/72)

Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. (4/72)

Behavioral visual responses of wild-type and hypopigmented zebrafish. (5/72)

Correlation between rod photoreceptor numbers and levels of ocular pigmentation. (6/72)

Motor and sensory characteristics of infantile nystagmus. (7/72)

Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay. (8/72)

Albinism

Albinism, Oculocutaneous

Monophenol Monooxygenase

Hermanski-Pudlak Syndrome

Nystagmus, Pathologic

Hypopigmentation

Folklore

Melanosomes

Nystagmus, Congenital

Eye

Ocular Hypertension

Eye Color

Melanocytes

Pigmentation

Albinism, Ocular

Melanins

Piebaldism

Toxoplasmosis, Ocular

Pigmentation Disorders

Evoked Potentials, Visual

Eye Proteins

Photophobia

Skin Pigmentation

Chediak-Higashi Syndrome

Membrane Transport Proteins

Electronystagmography

Visual Acuity

Dominance, Ocular

Genetic Diseases, X-Linked

Tonometry, Ocular

Pontederiaceae

Refraction, Ocular

Pedigree

Fundus Oculi

Iris

Eye Neoplasms

Characidae

Social Alienation

Mutation

Catechol Oxidase

Ocular Motility Disorders

Pigment Epithelium of Eye

Caves

Chondrodysplasia Punctata

Cornea

Ocular Physiological Phenomena

Fovea Centralis

Eye Injuries

Hair Color

Refractive Errors

Optic Chiasm

Intraocular Pressure

Tuberculosis, Ocular

Membrane Glycoproteins

Tears

Vision, Ocular

Strabismus

Iris Diseases

Ophthalmic Solutions

Platelet Storage Pool Deficiency

Ichthyosis

Kallmann Syndrome

Guinea

Visual Pathways

Optic Nerve

Retina

Prader-Willi Syndrome

Eye Infections, Parasitic

Puerto Rico

Receptor, Melanocortin, Type 1

Genes, Recessive

Conjunctival Diseases

Eye Infections

Uveitis

Melanophores

Dry Eye Syndromes

Phenotype

Sunscreening Agents

Conjunctivitis

Ocular Hypotension

中南大学郭朝晖