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optic atrophy 10 with or without ataxia, intellectual disability, and seizures (OPA10) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

optic atrophy 10 with or without ataxia, intellectual disability, and seizures

MONDO:0020737

Also known as:OPA10RTN4IP1-optic atrophy 10 with or without ataxia, impaired intellectual development and seizuresRTN4IP1-related optic atrophy with or without neurological features

Overview

An optic atrophy caused by a variation in the RTN4IP1; the optic atrophy can be associated with neurological involvement, including intellectual disability, ataxia, seizures.

GeneticsAutosomal recessive · RTN4IP1 (chr 6)

OnsetINFANTILE

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: Color vision defect, Reduced visual acuity, and Optic disc pallor; and very common findings: Photophobia. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	5	Blind-spot enlargement, Color vision defect, Nystagmus

Genetic Landscape

RTN4IP1 function has not been fully characterized.

Optic atrophy 10 with or without ataxia, intellectual disability, and seizures is associated with mutations in the RTN4IP1 gene on chromosome 6.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for RTN4IP1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for optic atrophy 10 with or without ataxia, intellectual disability, and seizures has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 1 very common feature, 4 common 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 10 with or without ataxia, intellectual disability, and seizures.

400 publications have been identified in PubMed for optic atrophy 10 with or without ataxia, intellectual disability, and seizures. Kisho has analyzed 33 by research type. Research spans Basic Science / Preclinical (39%), Case Report / Case Series (18%), and Review / Meta-Analysis (15%).

Research Type	Count	% of Total
Laboratory research	13

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616732

GARD

Genetic and Rare Diseases Info Center

GARD:18200

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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Kisho

optic atrophy 10 with or without ataxia, intellectual disability, and seizures

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

optic atrophy 10 with or without ataxia, intellectual disability, and seizures

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications