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Definition

An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth to have complete absence of melanin pigment, most patients acquire small amounts of pigment with age. Visual anomalies include decreased acuity and nystagmus. The phenotype is highly variable. The hair of affected individuals may turn darker with age, and pigmented nevi or freckles may be seen. African and African American individuals may have yellow hair and blue-gray or hazel irides. One phenotypic variant, 'brown OCA,' has been described in African and African American populations and is characterized by light brown hair and skin color and gray to tan irides.

Acronym

OCA2

Synonyms

Albinism II
BOCA
Brown oculocutaneous albinism
OCA-2
Oculocutaneous albinism type II
Oculocutaneous albinism tyrosinase-positive

Keywords

Albinism

 
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