Oculocutaneous Albinism

Published on 10/05/2015 by admin

Filed under Opthalmology

Last modified 22/04/2025

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12.4

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.

Figure 12.4.1 Color photograph of a patient with tyrosinase-positive oculocutaneous albinism shows a blond fundus with no distinct fovea.

OCT Features:

OCT line scans of the central macula reveal lack of a distinguished foveal depression, evidence of foveal hypoplasia (Fig. 12.4.2). As a result of this, the corresponding thickness map shows central ‘thickening’ in comparison to the normative database.

Figure 12.4.2 OCT line scan (corresponding to Figure 12.4.1) through the central macula shows foveal hypoplasia with lack of a well-defined foveal depression. The accompanying thickness map (inset) shows increased thickness centrally in comparison to a normative database due to the lack of a normal foveal depression.