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ocular albinism with late-onset sensorineural deafness (OASD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ocular albinism with late-onset sensorineural deafness

MONDO:0010390

Also known as:OASDalbinism ocular late onset sensorineural deafnessalbinism, ocular, with late-onset sensorineural deafness

Overview

Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome.

GeneticsX-linked

OnsetLATE

ResearchLimited published research (4 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: Albinism, Nystagmus, Depigmented fundus, and Nystagmus-induced head nodding and 4 more.

Organ System	Phenotype Count	Example Features
Eyes	3	Nystagmus, Nystagmus-induced head nodding, Visual impairment
Ears

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 ocular albinism with late-onset sensorineural deafness.

4 publications have been identified in PubMed for ocular albinism with late-onset sensorineural deafness. Research spans Review / Meta-Analysis (50%) and Epidemiology / Natural History (50%).

Recent Publications

Ambrosio L (2025). [PMID: 39860622](https://pubmed.ncbi.nlm.nih.gov/39860622/). *J Clin Med*. [Review / Meta-Analysis]
Katsaras G (2024). [PMID: 38921186](https://pubmed.ncbi.nlm.nih.gov/38921186/). *Hematol Rep*. [Review / Meta-Analysis]
Zhang X (2024). [PMID: 38632618](https://pubmed.ncbi.nlm.nih.gov/38632618/). *Hum Genomics*. [Epidemiology / Natural History]
Azmatullah (2024). [PMID: 39416614](https://pubmed.ncbi.nlm.nih.gov/39416614/). *Pak J Med Sci*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Oct 3, 2026, 11:23 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300650

Orphanet

European rare disease database

Orphanet:1000

GARD

Genetic and Rare Diseases Info Center

GARD:592

Questions for Your Care Team

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ocular albinism with late-onset sensorineural deafness

Overview

Clinical Presentation

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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