Genotypic and phenotypic analysis of an oculocutaneous albinism patient: a case report and review of the literature.

Abstract excerpt

BACKGROUND: Oculocutaneous albinism is a rare autosomal recessive disorder caused by congenital melanin deficiency, resulting in hypopigmentation of the eyes, hair, and skin. This study included a Chinese family with an oculocutaneous albinism pedigree, in which the proband presented with oculocutaneous albinismcombined with secondary angle closure, which has been rarely reported in previous literature. This...

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