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Oculocutaneous albinism.

J F Okulicz·R S Shah·R A Schwartz·C K Janniger
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Abstract

Oculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous, ocular and pilar pigmentation from the time of birth. Oculocutaneous albinism types 1 and 2 are the most common, but several other types have been described. A defect in the melanin synthesis pathway, resulting in reduced formation of melanin, is responsible for oculocutaneous albinism. Aetiology, clinical manifestations, diagnosis and management are discussed.

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BibTeXRIS

J F Okulicz, R S Shah, R A Schwartz, C K Janniger. 2003. Oculocutaneous albinism.. https://doi.org/10.1046/j.1468-3083.2003.00767.x

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OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism.

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PubMed2006

Distinct distal regulatory elements control tyrosinase expression in melanocytes and the retinal pigment epithelium.

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