Albinism oculocutaneous type 5 E70.2

Very rare variant of oculocutaneous albinism. The autosomal recessive, mild form of oculocutaneous albinism, has only been described in one Pakistani family.

Both sexes are equally affected.

The causative gene (OCA5 gene) has been mapped to chromosome region 4q24 but has not yet been further identified.

Infancy, newborn period

Clinical symptoms are: white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and decreased visual acuity.

1. Kausar T et al. (2013) OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24. Clin Genet 84:91-93.

2. Ullah MI (2022) . Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review. Genes (Basel) 13:1072