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Article

Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.

Genes - 30 Mar 2021

Chan Hwei Wuen, Schiff Elena R, Tailor Vijay K, Malka Samantha, Neveu Magella M, Theodorou Maria, Moosajee Mariya

Abstract excerpt

Albinism encompasses a group of hereditary disorders characterized by reduced or absent ocular pigment and variable skin and/or hair involvement, with syndromic forms such as Hermansky-Pudlak syndrome and Chédiak-Higashi syndrome. Autosomal recessive oculocutaneous albinism (OCA) is phenotypically and genetically heterogenous (associated with seven genes). X-linked ocular albinism (OA) is associated with only one...

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Identifiers

PMID: 33808351
DOI: 10.3390/genes12040508
PMCID: PMC8065601

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