" /> Oculocutaneous albinism type 2 - CISMeF





Preferred Label : Oculocutaneous albinism type 2;

ICD-11 definition : OCA-2 is caused by mutations in the OCA2 (P) gene. Affected individuals have pigmented hair at birth and may develop iris pigmentation, pigmented melanocytic naevi and freckles later in life.;

ICD-11 synonym : OCA2 - [Oculocutaneous albinism type 2];

ICD-11 acronym : OCA2;

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OCA-2 is caused by mutations in the OCA2 (P) gene. Affected individuals have pigmented hair at birth and may develop iris pigmentation, pigmented melanocytic naevi and freckles later in life.

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28/05/2025


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