oculocutaneous albinism type 5
Findings
No curated finding names oculocutaneous albinism type 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered.
Definition from the Mondo Disease Ontology (MONDO:0014127), read 2026-09-29. CC BY 4.0.
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal fundus morphologyHPOHP:0001098
- Obligate (100% of cases)
- High palateHPOHP:0000218
- Obligate (100% of cases)
- Hypoplasia of the foveaHPOHP:0007750
- Obligate (100% of cases)
- NystagmusHPOHP:0000639
- Obligate (100% of cases)
- Ocular albinismHPOHP:0001107
- Obligate (100% of cases)
- PhotophobiaHPOHP:0000613
- Obligate (100% of cases)
- Reduced visual acuityHPOHP:0007663
Where it sits
- A kind of
Other names
1 name
Resolves to: oculocutaneous albinism type 5
- Also called
- OCA5