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En 中文
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.
Keyword:
oculocutaneous albinism
genetic disease
pigment disorder
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Sequence-based diagnosis of tyrosinase-related oculocutaneous albinism: Successful sequence analysis of the tyrosinase gene from blood spots dried on filter paper.png)
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