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autosomal recessive optic atrophy, OPA7 type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive optic atrophy, OPA7 type

MONDO:0013069

Also known as:TMEM126A-related optic atrophy with or without extraocular featuresoptic atrophy 7OPA7

Overview

An optic atrophy that is caused by a mutation in the TMEM126A gene.

GeneticsAutosomal recessive · TMEM126A (chr 11)

OnsetCHILDHOOD

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 sometimes findings: Strabismus, Thickened heart muscle (hypertrophic cardiomyopathy), Inner ear hearing loss (sensorineural hearing impairment), and Horizontal nystagmus. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	5	Strabismus, Visual impairment, Damage to the optic nerve (optic atrophy)

Genetic Landscape

TMEM126A function has not been fully characterized.

Autosomal recessive optic atrophy, OPA7 type is caused by mutations in the TMEM126A gene on chromosome 11.

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 TMEM126A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive optic atrophy, OPA7 type 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 autosomal recessive optic atrophy, OPA7 type.

211 publications have been identified in PubMed for autosomal recessive optic atrophy, OPA7 type. Kisho has analyzed 95 by research type. Research spans Basic Science / Preclinical (40%), Review / Meta-Analysis (24%), and Case Report / Case Series (9%).

Research Type	Count	% of Total
Laboratory research	38	40%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612989

Orphanet

European rare disease database

Orphanet:227976

GARD

Genetic and Rare Diseases Info Center

GARD:17143

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

autosomal recessive optic atrophy, OPA7 type

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

autosomal recessive optic atrophy, OPA7 type

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications