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oculocutaneous albinism (OCA) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

oculocutaneous albinism

MONDO:0018910

Also known as:OCAnon-syndromic oculocutaneous albinismnonsyndromic oculocutaneous albinism

Find Clinical TrialsTrials

Overview

Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7.

Clinical Trials2 registered · 2 recruiting

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.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

The phenotypic spectrum of oculocutaneous albinism type 4 (OCA4) is broad . The amount of cutaneous pigmentation in individuals with OCA4 is a continuum from minimal to near normal [, , , , ]. The amount of iris and retinal pigment varies, and visual acuity covers a wide range.

Source: GeneReviews — "Oculocutaneous Albinism Type 4"

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

To date, no consensus clinical diagnostic criteria for oculocutaneous albinism type 4 (OCA4) have been published.

Suggestive Findings

OCA4 should be considered in probands with the following clinical findings and family history. Clinical findings. Most individuals with OCA4 are recognized within the first year of life because of the following findings.

Source: GeneReviews — "Oculocutaneous Albinism Type 4"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for oculocutaneous albinism. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

To date, no clinical practice guidelines for oculocutaneous albinism type 4 (OCA4) have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with OCA4, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the following evaluations are recommended:

Annual ophthalmologic examinations and reassessment for accurate correction of refractive errors are appropriate.
Although there are no definitive guidelines supported by scientific evidence as to the frequency that an individual should be evaluated by a dermatologist, skin evaluation for cancer screening every six months is recommended.

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.

2 clinical trials registered, 2 recruiting. Interventions under study include other interventions and gene therapy. Pipeline includes 1 EARLY_PHASE1. Research is primarily sponsored by academic and government institutions.

162 publications have been identified in PubMed for oculocutaneous albinism. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (30%), and Epidemiology / Natural History (11%).

Research Type	Count	% of Total
Patient case studies	65

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:55

GARD

Genetic and Rare Diseases Info Center

GARD:10958

Questions for Your Care Team

→Are any of the 2 active clinical trials a good fit for my situation?
→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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Kisho

oculocutaneous albinism

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Vision

Genetic counseling

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

[Analysis of a child with Oculocutaneous albinism due to compound heterozygous variants of OCA2 gene].

oculocutaneous albinism

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Vision

Genetic counseling

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

[Analysis of a child with Oculocutaneous albinism due to compound heterozygous variants of OCA2 gene].