DefinitionThis section has been translated automatically.
Very rare variant of oculocutaneous albinism. The autosomal recessive, mild form of oculocutaneous albinism, has only been described in one Pakistani family.
Occurrence/EpidemiologyThis section has been translated automatically.
Both sexes are equally affected.
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EtiopathogenesisThis section has been translated automatically.
The causative gene has been mapped to chromosomal region 4q24 but has not yet been 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.
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Please ask your physician for a reliable diagnosis. This website is only meant as a reference.