oculocutaneous albinism type 2 (OCA2)

Introduction

disorder of pigmentation in the skin, hair, & eyes

Epidemiology

• most prevalent type of albinism throughout the world

Genetics

• autosomal recessive
• associated with defects in OCA2

Clinical manifestations

• typically somewhat less severe than in those with tyrosinase-deficient oculocutaneous albinism type 1
• several forms with different severity

More general terms

• oculocutaneous albinism

Database

• OMIM: https://mirror.omim.org/entry/203200