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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.
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 12:30 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Features include common findings: Hypopigmentation of hair, Hypopigmentation of the skin, Nystagmus, and Hypoplasia of the fovea and others; and sometimes findings: White eyelashes, Basal cell carcinoma, Squamous cell carcinoma of the skin, and Cutaneous melanoma and others. 32 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 6 | Strabismus, Nystagmus, Visual impairment |
Skin | 4 | Hypopigmentation of the skin, Squamous cell carcinoma of the skin, Absent skin pigmentation |
OCA2 encodes OCA2 melanosomal transmembrane protein (838 aa). Contributes to a melanosome-specific anion (chloride) current that modulates melanosomal pH for optimal tyrosinase activity required for melanogenesis and the melanosome maturation. Highest expression in Artery Tibial (10.5 TPM) and Thyroid (9.2 TPM).
Oculocutaneous albinism type 2 is caused by mutations in the OCA2 gene on chromosome 15.
The OCA2 protein participates in Tyrosinase oxidises tyrosine to dopaquinone pathway.
OCA2 is classified as a druggable target (Transporter category) with score 4.7.
Genetic testing for OCA2 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for oculocutaneous albinism type 2 has been reported in the published literature.
Phenotype severity distribution: 17 common features.
Estimated prevalence: 1-9 in 100,000 (Uncommon).
No clinical trials have been registered for oculocutaneous albinism type 2.
8 publications have been identified in PubMed for oculocutaneous albinism type 2. Kisho has analyzed 6 by research type. Research spans Diagnostic / Biomarker (33%), Basic Science / Preclinical (33%), and Case Report / Case Series (17%).
Gillis MF (2026). [PMID: 41905947](https://pubmed.ncbi.nlm.nih.gov/41905947/). *Pigment Cell Melanoma Res*. [Basic Science / Preclinical]
Chen C (2026). [PMID: 42195040](https://pubmed.ncbi.nlm.nih.gov/42195040/). *Genes (Basel)*. [Epidemiology / Natural History]
Neissi M (2025). [PMID: 40735666](https://pubmed.ncbi.nlm.nih.gov/40735666/). *Asian Biomed (Res Rev News)*. [Basic Science / Preclinical]
Yang Q (2025). [PMID: 39636647](https://pubmed.ncbi.nlm.nih.gov/39636647/). *Pigment Cell Melanoma Res*. [Diagnostic / Biomarker]
Luo L (2025). [PMID: 40313672](https://pubmed.ncbi.nlm.nih.gov/40313672/). *Front Pediatr*. [Case Report / Case Series]
Michaud V (2024). [PMID: 37650133](https://pubmed.ncbi.nlm.nih.gov/37650133/). *Pigment Cell Melanoma Res*. [Diagnostic / Biomarker]