Catalog

Oculocutaneous albinism type 1A

No MMS code

Link to WHO Definition

Oculocutaneous albinism type 1A – http://id.who.int/icd/entity/1168847652

OCA-1 is caused by mutation in the tyrosinase gene (TYR). OCA-1A is due to complete absence of TYR and a more severe clinical phenotype than OCA-1B.