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

Rare Disease

autosomal dominant optic atrophy and peripheral neuropathy

MONDO:0016646

Overview

Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.

ResearchLimited published research (5 articles)

Diagnosis

Biomarker and diagnostic research for autosomal dominant optic atrophy and peripheral neuropathy has been reported in the published literature.

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 autosomal dominant optic atrophy and peripheral neuropathy.

8 publications have been identified in PubMed for autosomal dominant optic atrophy and peripheral neuropathy. Kisho has analyzed 5 by research type. Research spans Case Report / Case Series (40%), Diagnostic / Biomarker (20%), and Review / Meta-Analysis (20%).

Recent Publications

Khandelwal S (2026). [PMID: 41675840](https://pubmed.ncbi.nlm.nih.gov/41675840/). *Ann Med Surg (Lond)*. [Case Report / Case Series]
Lee NS (2026). [PMID: 41958053](https://pubmed.ncbi.nlm.nih.gov/41958053/). *Ophthalmic Genet*. [Case Report / Case Series]
Edelmayer MV (2025). [PMID: 41094347](https://pubmed.ncbi.nlm.nih.gov/41094347/). *Doc Ophthalmol*. [Diagnostic / Biomarker]
Jimoh IJ (2025). [PMID: 39978794](https://pubmed.ncbi.nlm.nih.gov/39978794/). *Clin Genet*. [Epidemiology / Natural History]
Zanfardino P (2025). [PMID: 40149969](https://pubmed.ncbi.nlm.nih.gov/40149969/). *Biomolecules*. [Review / Meta-Analysis]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 3:09 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:250932

GARD

Genetic and Rare Diseases Info Center

GARD:20686

Questions for Your Care Team

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autosomal dominant optic atrophy and peripheral neuropathy

Overview

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team