An autosomal recessive, tyrosinase positive type of oculocutaneous albinism where MELANIN biosynthesis is reduced in the skin. Infants appear phenotypically similar to OCA1 (OMIM: 203100) but acquire small amounts of pigment with age. Affected individuals also have other similar, though less severe, phenotypes to OCA1. Mutations in the OCA2 gene have been identified. OMIM: 203200
Also Known As:
Albinism 2; Albinism II; Albinism, Oculocutaneous, Type II; Albinism, oculocutaneous, type 2; Albinoidism; OCA2; Oculocutaneous Albinism, Type II; Oculocutaneous Albinism, Tyrosinase-Positive; Oculocutaneous albinism tyrosinase positive; Tyrosinase-positive oculocutaneous albinism