Oculocutaneous Albinism

Published on 10/05/2015 by admin

Filed under Opthalmology

Last modified 10/05/2015

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Oculocutaneous Albinism

Introduction:

Oculocutaneous albinism is a rare, typically autosomal recessive, disorder featuring a dysfunction of the melanin producing cells in the eye, hair, and skin. Tyrosinase-negative forms feature an inability to produce melanin, whereas tyrosinase-positive forms have a decreased ability to produce melanin.

Clinical Features:

The fundus of tyrosinase-negative individuals have a complete lack of pigmentation, whereas tyrosinase-positive individuals have a variable, but reduced, amount of fundus pigmentation (Fig. 12.4.1). Foveal hypoplasia is characteristically present in both types.

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