ocular albinism
Findings
No curated finding names ocular albinism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.
Definition from the Mondo Disease Ontology (MONDO:0017304), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GPR143HGNC:20145
- Definitive · G2P · X-linked · 2017
Where it sits
Other names
1 name
Resolves to: ocular albinism
- Also called
- ocular albinism (disease)