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oculocutaneous albinism type 1B (OCA1B) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

oculocutaneous albinism type 1B

MONDO:0011749

Also known as:OCA1BYellow oculocutaneous albinismalbinism, Yellow mutant type

Overview

Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.

GeneticsAutosomal recessive · TYR (chr 11)

ResearchLimited published research (5 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, and Strabismus and others; and common findings: Nystagmus, Photophobia, Visual impairment, and Abnormal optic nerve morphology and others. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	5	Nystagmus, Visual impairment, Strabismus

Genetic Landscape

TYR function has not been fully characterized.

Oculocutaneous albinism type 1B is associated with mutations in the TYR gene on chromosome 11.

Diagnosis

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

Prognosis

Phenotype severity distribution: 7 very common features, 6 common features.

Estimated prevalence: 1-9 in 100,000 (Uncommon).

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 1B.

5 publications have been identified in PubMed for oculocutaneous albinism type 1B. Research spans Case Report / Case Series (40%), Other (20%), and Basic Science / Preclinical (20%).

Recent Publications

Montané C (2026). [PMID: 42083716](https://pubmed.ncbi.nlm.nih.gov/42083716/). *Cureus*. [Case Report / Case Series]
Nagy N (2025). [PMID: 40307117](https://pubmed.ncbi.nlm.nih.gov/40307117/). *J Dermatol Sci*. [Other]
Jacinto JGP (2025). [PMID: 40913728](https://pubmed.ncbi.nlm.nih.gov/40913728/). *Mol Genet Genomics*. [Basic Science / Preclinical]
Dolinska MB (2025). [PMID: 41279351](https://pubmed.ncbi.nlm.nih.gov/41279351/). *bioRxiv*. [Gene Therapy / Novel Therapeutics]
Serrano-González J (2024). [PMID: 38994739](https://pubmed.ncbi.nlm.nih.gov/38994739/). *Mol Genet Genomic Med*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 12:38 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:606952

Orphanet

European rare disease database

Orphanet:79434

GARD

Genetic and Rare Diseases Info Center

GARD:594

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 1B

Overview

Clinical Presentation

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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