Very rare variant of oculocutaneous albinism. The autosomal recessive, mild form of oculocutaneous albinism, has only been described in one Pakistani family.
Albinism oculocutaneous type 5E70.2
DefinitionThis section has been translated automatically.
Occurrence/EpidemiologyThis section has been translated automatically.
Both sexes are equally affected.
EtiopathogenesisThis section has been translated automatically.
The causative gene (OCA5 gene) has been mapped to chromosome region 4q24 but has not yet been further identified.
ManifestationThis section has been translated automatically.
Infancy, newborn period
Clinical featuresThis section has been translated automatically.
Clinical symptoms are: white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and decreased visual acuity.
LiteratureThis section has been translated automatically.
- Kausar T et al. (2013) OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24. Clin Genet 84:91-93.
Ullah MI (2022) . Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review. Genes (Basel) 13:1072