Rufous oculocutaneous albinism (ROCA)

Epidemiology

occurs in blacks

Genetics

• associated with defects in TYRP1

Clinical manifestations

• characterized by bright copper-red coloration of the skin & hair
• dilution of the color of the iris

More general terms

• oculocutaneous albinism

Database

• OMIM: https://mirror.omim.org/entry/278400