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optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant

MONDO:0008131

Overview

GeneticsAutosomal dominant

OnsetJUVENILE

ResearchLimited published research (2 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: Impaired vibration sensation in the lower limbs, Progressive sensorineural hearing impairment, Visual impairment, and Damage to the optic nerve (optic atrophy) and 1 more.

Organ System	Phenotype Count	Example Features
Arms and legs	2	Impaired vibration sensation in the lower limbs, Areflexia of lower limbs

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 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant.

2 publications have been identified in PubMed for optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant. Research spans Case Report / Case Series (50%) and Gene Therapy / Novel Therapeutics (50%).

Recent Publications

Khandelwal S (2026). [PMID: 41675840](https://pubmed.ncbi.nlm.nih.gov/41675840/). *Annals of medicine and surgery (2012)*. [Case Report / Case Series]
Bora P (2025). [PMID: 41289394](https://pubmed.ncbi.nlm.nih.gov/41289394/). *Proceedings of the National Academy of Sciences of the United States of America*. [Gene Therapy / Novel Therapeutics]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:165199

GARD

Genetic and Rare Diseases Info Center

GARD:402

Questions for Your Care Team

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optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant

Overview

Clinical Presentation

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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