oculocutaneous albinism type 2
MeSH: C537730ORPHA: 79432
Overview
oculocutaneous albinism that has material basis in an autosomal recessive mutation of OCA2 on chromosome 15q12-q13
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with oculocutaneous albinism type 2, sourced from HPO and Orphanet clinical annotations.
Abnormality of refractionPhotophobiaBlue iridesNystagmusHypopigmentation of the skinHeterochromia iridisFrecklingWhite eyebrowHypopigmentation of hairReduced visual acuityAbnormal retinal pigmentationIris hypopigmentationHypoplasia of the foveaMacular hypopigmentationWhite hairIris transillumination defectOptic nerve misroutingWhite eyelashesBasal cell carcinomaSquamous cell carcinoma of the skinCutaneous melanomaPosterior staphylomaAbsent skin pigmentationHyperpigmented nevi
Classification & Codes
MeSH Code
C537730Orphanet Code
ORPHA:79432oculocutaneous albinism type 2
| MeSH | C537730 |
| Orphanet | ORPHA:79432 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO