ocular albinism

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A hereditary eye disease of humans that occurs in two forms, one inherited as an autosomal recessive and the other X-linked. The X-linked condition is the most common form of ocular albinism. In males, the prevalence of the disease is 1/50,000. The normal gene is at Xp22.3, and it encodes a protein that contains 424 amino acids. This is located in the membranes of melanosomes but is not a tyrosinase. Males show a reduced pigmentation of the retina (q.v.) and iris but not of the hair and skin. They are extremely sensitive to light and have reduced visual acuity. Patients with ocular albinism or oculocutaneous albinism have a misrouting of the optic tracts, which results in a loss of stereoscopic vision. In heterozygous females, retinas show a mosaic pattern of pigment distribution due to random inactivation of the X chromosomes during the early development of the eye. See albinism, dosage compensation.

Subjects: Genetics and Genomics.

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