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optic atrophy 9 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

optic atrophy 9

MONDO:0014571

Also known as:ACO2 autosomal recessive isolated optic atrophyautosomal recessive isolated optic atrophy caused by mutation in ACO2OPA9

Overview

GeneticsAutosomal recessive · ACO2 (chr 22)

OnsetCHILDHOOD, ADULT

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 always present findings: Reduced visual acuity, Visual impairment, Damage to the optic nerve (optic atrophy), and Red-green dyschromatopsia and others.

Organ System	Phenotype Count	Example Features
Eyes	3	Visual impairment, Damage to the optic nerve (optic atrophy), Optic disc pallor

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ACO2 encodes aconitase 2 (780 aa). Catalyzes the isomerization of citrate to isocitrate via cis-aconitate Highest expression in Muscle Skeletal (272.4 TPM) and Heart Left Ventricle (252.4 TPM).

Optic atrophy 9 is caused by mutations in the ACO2 gene on chromosome 22.

The ACO2 protein participates in ACO2 isomerizes citrate, Frataxin transfers Fe2+ to ACO2, and ROS,RNS oxidize ACO2:4Fe-4S pathways.

ACO2 is classified as a druggable target (Enzyme category) with score 0.0.

41 pathogenic variants reported in ACO2 in ClinVar, including hotspot variants 218317 and NP_001089.1:p.Leu74Val (1-star review).

Variant

Diagnosis

Genetic testing for ACO2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features.

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 9.

4 publications have been identified in PubMed for optic atrophy 9. Research spans Review / Meta-Analysis (50%) and Epidemiology / Natural History (50%).

Recent Publications

Beaulieu C (2026). [PMID: 41954904](https://pubmed.ncbi.nlm.nih.gov/41954904/). *JAMA Ophthalmol*. [Review / Meta-Analysis]
Zheng Y (2025). [PMID: 39423307](https://pubmed.ncbi.nlm.nih.gov/39423307/). *Brain*. [Epidemiology / Natural History]
Delibes C (2024). [PMID: 38796496](https://pubmed.ncbi.nlm.nih.gov/38796496/). *J Transl Med*. [Epidemiology / Natural History]
Padalko V (2024). [PMID: 39337438](https://pubmed.ncbi.nlm.nih.gov/39337438/). *Int J Mol Sci*. [Review / Meta-Analysis]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 10:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616289

GARD

Genetic and Rare Diseases Info Center

GARD:18199

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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optic atrophy 9

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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