Rufous oculocutaneous albinism

Overview

A rare inherited disorder characterized by abnormal pigmentation balance in the skin, eyes and hair (due to a genetic mutation of the MC1R gene). Tyrosinase, which is needed for the production of melanin which gives the skin, hair and eyes their color, is present but but a pigmentation imbalance causes a distinctive reddish coloration to the skin and hair.

Symptoms

* Reddish-brown skin * Ginger hair * Red hair * Hazel iris * Brown iris * Vision problems * Reduced visual acuity * Involuntary eye movements * Increased light sensitivity