OCA6E70.2

Last updated on: 23.07.2024

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DefinitionThis section has been translated automatically.

Oculocutaneous albinism type VI is an autosomal recessive disorder with a prevalence of about 1:17,000 worldwide.

EtiopathogenesisThis section has been translated automatically.

This form of albinism is caused by a null mutation of the SLC24A5 gene on chromosome 15q21.1.

Clinical featuresThis section has been translated automatically.

Oculocutaneous albinism type VI is characterized by a reduced or complete loss of melanin in the skin, hair and eyes, resulting in features such as light hair at birth that darkens with age, white skin, transparent irises, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.

LiteratureThis section has been translated automatically.

Thomas MG et al. (2023) Oculocutaneous Albinism and Ocular Albinism Overview. 2023 Apr 13. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle 1993-2024.

Last updated on: 23.07.2024