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oculocutaneous albinism type 5 (OCA5) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

oculocutaneous albinism type 5

MONDO:0014127

Also known as:OCA5albinism, oculocutaneous, type Voculocutaneous albinism type V

Overview

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.

GeneticsAutosomal recessive

Clinical Presentation

Features include: Albinism, Nystagmus, Hypoplasia of the fovea, and Photophobia.

Organ System	Phenotype Count	Example Features
Eyes	1	Nystagmus

Explore clinical features

Diagnosis

Biomarker and diagnostic research for oculocutaneous albinism type 5 has been reported in the published literature.

Prognosis

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 5.

22 publications have been identified in PubMed for oculocutaneous albinism type 5. Research spans Case Report / Case Series (43%), Diagnostic / Biomarker (19%), and Basic Science / Preclinical (19%).

Research Type	Count	% of Total
Patient case studies	9	43%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615312

Orphanet

European rare disease database

Orphanet:370091

GARD

Genetic and Rare Diseases Info Center

GARD:17598

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 5

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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