oculocutaneous albinism type 4 (OCA4)

Introduction

disorder of pigmentation in the skin, hair, & eyes

Pathology

• diminished biosynthesis of melanin in the skin, hair & eyes

Genetics

• autosomal recessive
• associated with defects in SLC45A2

Clinical manifestations

• diminished visual acuity

More general terms

• oculocutaneous albinism

Database

• OMIM: https://mirror.omim.org/entry/606574