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optic atrophy 2 (OPA2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

optic atrophy 2

MONDO:0010698

Also known as:OPA2non-Leber type optic atrophy with early-onsetoptic atrophy 2, X-linked

Overview

A rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.

GeneticsX-linked

ResearchLimited published research (3 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: Hyperactive patellar reflex, Babinski sign, Dysarthria, and Dysdiadochokinesis and 4 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Babinski sign, Dysarthria, Intellectual disability
Eyes

Diagnosis

Biomarker and diagnostic research for optic atrophy 2 has been reported in the published literature.

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 optic atrophy 2.

3 publications have been identified in PubMed for optic atrophy 2. Research spans Diagnostic / Biomarker (33%), Case Report / Case Series (33%), and Epidemiology / Natural History (33%).

Recent Publications

Sahu M (2025). [PMID: 40714953](https://pubmed.ncbi.nlm.nih.gov/40714953/). *Ann Clin Transl Neurol*. [Case Report / Case Series]
Kumar H (2024). [PMID: 38454844](https://pubmed.ncbi.nlm.nih.gov/38454844/). *Indian J Ophthalmol*. [Epidemiology / Natural History]
Handzic A (2024). [PMID: 37616072](https://pubmed.ncbi.nlm.nih.gov/37616072/). *J Neuroophthalmol*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:311050

Orphanet

European rare disease database

Orphanet:98890

GARD

Genetic and Rare Diseases Info Center

GARD:10199

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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optic atrophy 2

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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