Catalog

Oculocutaneous albinism type 3

No MMS code

Link to WHO Definition

Oculocutaneous albinism type 3 – http://id.who.int/icd/entity/1565320806

OCA3 is caused by a mutation in the TYRP1 gene and is commonly called rufous oculocutaneous albinism (ROCA). It occurs principally in Sub-Saharan Africa and is characterised by bright copper-red colouration of the skin and hair and by dilution of the colour of the irides.