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oculocutaneous albinism type 6 (OCA6) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

oculocutaneous albinism type 6

MONDO:0018264

Also known as:OCA6albinism, oculocutaneous, type VIskin/hair/eye pigmentation 4, fair/dark skin

Overview

A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.

GeneticsAutosomal recessive · SLC24A5 (chr 15)

ResearchLimited published research (2 articles)

Clinical Presentation

Features include always present findings: Nystagmus, Fair hair, Hypoplasia of the fovea, and Photophobia and others.

Organ System	Phenotype Count	Example Features
Eyes	2	Nystagmus, Visual impairment

Explore clinical features

Genetic Landscape

SLC24A5 function has not been fully characterized.

Oculocutaneous albinism type 6 is associated with mutations in the SLC24A5 gene on chromosome 15.

Diagnosis

Genetic testing for SLC24A5 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 7 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for oculocutaneous albinism type 6.

2 publications have been identified in PubMed for oculocutaneous albinism type 6. Research spans Case Report / Case Series (100%).

Recent Publications

Rateaux M (2025). [PMID: 39951296](https://pubmed.ncbi.nlm.nih.gov/39951296/). *Invest Ophthalmol Vis Sci*. [Case Report / Case Series]
Koulali H (2024). [PMID: 39493955](https://pubmed.ncbi.nlm.nih.gov/39493955/). *ACG Case Rep J*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:04 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:113750

Orphanet

European rare disease database

Orphanet:370097

GARD

Genetic and Rare Diseases Info Center

GARD:17599

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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oculocutaneous albinism type 6

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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