Definition of Albinism, oculocutaneous
Albinism, oculocutaneous: An hereditary disorder characterized by deficiency of the pigment melanin in the eyes, skin and hair. The lack of eye pigment causes photophobia (sensitivity to light), nystagmus, and decreased visual acuity.
Oculocutaneous albinism is conventionally classified as to whether it is tyrosinase-negative or tyrosinase-positive. In the tyrosinase-negative class, there is absence of the enzyme tyrosinase. In the tyrosinase-positive class, tyrosinase is present but it cannot enter pigment cells to do its job and make melanin.
There are a number of specific types of oculocutaneous albinism, all of which are inherited in an autosomal recessive manner:
Oculocutaneous albinism is also a feature of certain other genetic conditions including the Hermansky-Pudlak syndrome and Chediak-Higashi syndrome.
Last Editorial Review: 6/14/2012
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