oculocutaneous albinism type 2
Findings
No curated finding names oculocutaneous albinism type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.
Definition from the Mondo Disease Ontology (MONDO:0008746), read 2026-09-29. CC BY 4.0.
Features
24 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 retinal pigmentationHPOHP:0007703
- Frequent (30% to 79% of cases)
- Abnormality of refractionHPOHP:0000539
- Frequent (30% to 79% of cases)
- Blue iridesHPOHP:0000635
- Frequent (30% to 79% of cases)
- FrecklingHPOHP:0001480
- Frequent (30% to 79% of cases)
- Heterochromia iridisHPOHP:0001100
- Frequent (30% to 79% of cases)
- Hypopigmentation of hairHPOHP:0005599
- Frequent (30% to 79% of cases)
- Hypopigmentation of the skinHPOHP:0001010
- Frequent (30% to 79% of cases)
- Hypoplasia of the foveaHPOHP:0007750
- Frequent (30% to 79% of cases)
- Iris hypopigmentationHPOHP:0007730
- Frequent (30% to 79% of cases)
- Iris transillumination defectHPOHP:0012805
- Frequent (30% to 79% of cases)
- Macular hypopigmentationHPOHP:0007988
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
Show the remaining 12
- Optic nerve misroutingHPOHP:0025551
- Frequent (30% to 79% of cases)
- PhotophobiaHPOHP:0000613
- Frequent (30% to 79% of cases)
- Reduced visual acuityHPOHP:0007663
- Frequent (30% to 79% of cases)
- White eyebrowHPOHP:0002226
- Frequent (30% to 79% of cases)
- White hairHPOHP:0011364
- Frequent (30% to 79% of cases)
- Absent skin pigmentationHPOHP:0200098
- Occasional (5% to 29% of cases)
Genes
2 genes
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.
- OCA2HGNC:8101
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- MC1RHGNC:6929
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: oculocutaneous albinism type 2
- Also called
- albinism, oculocutaneous, type II, modifier ofOCA2oculocutaneous albinism, tyrosinase-positive