Catalog

Oculocutaneous albinism type 2

No MMS code

Link to WHO Definition

Oculocutaneous albinism type 2 – http://id.who.int/icd/entity/2019316252

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.