/oculocutaneous albinism type 2

oculocutaneous albinism type 2

Rare Disease

MONDO:0008746

Also Known As

OCA2albinism, oculocutaneous, type II, modifier ofoculocutaneous albinism type 2oculocutaneous albinism, tyrosinase-positiveAlbinoidismBrown oculocutaneous albinismalbinism 2albinism, Brown oculocutaneousalbinism, oculocutaneous, type 2albinism, oculocutaneous, type IIoculocutaneous albinism type IIoculocutaneous albinism tyrosinase positiveoculocutaneous albinism, type 2tyrosinase-positive oculocutaneous albinism

Definition

Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.