oculocutaneous albinism

albinism /al·bi·nism/ (al´bĭ-nizm) congenital absence, either total or partial, of normal pigmentation in the body (hair, skin, eyes) due to a defect in melanin synthesis.albinot´ic

ocular albinism that in which skin and hair pigmentation is virtually or wholly normal, with ocular abnormalities varying by type.

oculocutaneous albinism (OCA) a human albinism occurring in ten types, all having in common decreased melanotic pigmentation of the hair, skin, and eyes, hypoplastic foveas, photophobia, nystagmus, and decreased visual acuity.

oculocutaneous albinism (OCA)

[ok′yo̅o̅lōkyo̅o̅tā′- nē·əs]

a human albinism occurring in ten types, all distinguished in their incidence and genetic, biochemical, and clinical characteristics but having in common varying degrees of decreased melanotic pigment of the skin, hair, and eyes; hypoplastic foveas; photophobia; nystagmus; and decreased visual acuity.

albinism

Congenital anomaly due to a defect of melanin production as a result of one of several possible genetic defects. Oculocutaneous albinism type 1(OCA1) is due to a genetic defect in tyrosinase, the enzyme that metabolizes the amino acid tyrosine, which is essential for its conversion to melanin (formerly called tyrosinase-negative albinism). It is an autosomal recessive condition, which affects the skin, hair and eyes. The iris is a pale colour, the fundus and the pupil are reddish and the eye transilluminates markedly. There is poor visual acuity, photophobia, nystagmus and strabismus. Oculocutaneous type 2 (OCA2) is caused by a mutation of the OCA2 ('P') gene resulting in variable amounts of melanin synthesis. The hypopigmentation of the eyes, skin and hair varies from fair to normal (formerly called tyrosinase-positive albinism). It may be associated with the Hermansky-Pudlak syndrome in which there is albinism and easy bruising or bleeding. The other type of albinism is ocular albinism type 1 (OA1). It is inherited either as an X-linked or less commonly as an autosomal recessive trait. It affects mainly the eyes and in most instances males only and the skin colour is usually normal. Management involves full correction, possibly with tinted lenses. Surgery may be required for strabismus. See ocular fundus; inheritance; trans-illumination.

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Aarskog syndrome Adams-Stokes syndrome Adie's syndrome afferent loop syndrome Ahumada-del Castillo syndrome Alagille syndrome albinism Albright's syndrome Alport's syndrome Apert's syndrome Brown Oculocutaneous Albinism Chédiak-Higashi syndrome de Lange's syndrome dominant eye Ermine Phenotype Hermansky-Pudlak syndrome inheritance Kimmelstiel-Wilson syndrome Kugelberg-Welander syndrome			1 They reported cases of two unrelated individuals with oculocutaneous albinism and lifelong bleeding complications. Two Successful Vaginal Births after Cesarean Section in a Patient ... by Ronald D Beesley and Randal D Robinson and Theresa L Stewart / Military Medicine The most severe form of albinism is called oculocutaneous albinism. Albinism ? Symptoms, Causes and Treatment by Richard James / Health, general community Albinism in hair, skin, and eyes is called oculocutaneous albinism. What Is Albinism and What Are the Main Causes of Albinism? by peterhutch / Health, general community			ocular myopathy Ocular neovascularization ocular pathology ocular photodynamic therapy ocular plethysmography ocular prosthesis ocular refraction ocular rigidity ocular tension ocular torticollis ocular ultrasonography ocular vertigo ocular vesicle ocularist oculist oculo- oculoauriculovertebral dysplasia oculocardiac reflex oculocentesis oculocentre oculocentric direction oculocephalic reflex oculocerebral-hypopigmentation syndrome oculocerebrorenal syndrome oculocutaneous oculocutaneous albinism oculodentodigital dysplasia oculodermal melanosis oculofacial oculoglandular syndrome oculography oculogyration oculogyria oculogyric oculogyric crisis oculomandibulodyscephaly oculomotor oculomotor nerve oculomotor nucleus oculomotorius oculomycosis oculonasal Oculopharyngeal muscular dystrophy oculoplastic oculoplethysmography oculopneumoplethysmography oculopupillary oculoskeletal dysplasia oculovertebral dysplasia oculovestibulocephalic reflex oculozygomatic			OCULL oculo- oculo- oculo- Oculo-Auriculo--Vertebral-Disorder Oculo-Respiratory Syndrome oculoagravic illusion Oculoauriculofrontonasal Syndrome oculoauriculovertebral dysplasia Oculoauriculovertebral Spectrum Oculocardiac reflex Oculocardiac reflex Oculocardiac reflex Oculocardiac reflex oculocentesis oculocentre oculocentric direction oculocentric direction oculocentric direction Oculocephalic reflex Oculocephalic reflex Oculocephalic reflex Oculocephalic reflex Oculocephalogyric Reflex oculocerebral-hypopigmentation syndrome oculocerebrorenal syndrome oculocerebrorenal syndrome oculocerebrorenal syndrome Oculocerebrorenal Syndrome of Lowe oculocutaneous oculocutaneous albinism Oculocutaneous albinism type 1 Oculocutaneous albinism type 1 Oculocutaneous albinism type 1 Oculocutaneous albinism type 1 Oculocutaneous albinism type 2 Oculocutaneous albinism type 2 Oculocutaneous albinism type 2 Oculocutaneous albinism type 2 Oculocutaneous albinism type 3 Oculocutaneous albinism type 3 Oculocutaneous albinism type 3 Oculocutaneous Albinism, Type IB Oculocutaneous albinism, tyrosinase positive Oculocutaneous albinism, tyrosinase positive Oculocutaneous albinism, tyrosinase positive oculocutaneous hypopigmentation oculodentodigital dysplasia oculodentodigital dysplasia oculodentodigital dysplasia oculodentodigital dysplasia oculodentodigital syndrome oculodentodigital syndrome oculodentodigital syndrome Oculodentoosseous Dysplasia oculodermal melanosis Oculodigitoesophagoduodenal Syndrome oculofacial Oculofacial Plastic and Reconstructive Surgery oculoglandular syndrome oculoglandular tularemia