Living with Autosomal recessive optic atrophy, OPA7 type
A rare inherited eye nerve condition with vision loss starting in childhood.
Understanding Autosomal recessive optic atrophy, OPA7 type
Vision loss starts early and gets worse over time. It can come with trouble seeing colors, mild hearing loss, nerve damage affecting feeling and movement, and occasionally thickened heart muscle (hypertrophic cardiomyopathy). Onset is listed as childhood.
Signs & symptoms
GARD doesn't list common symptoms. It lists these as less common:
- Vision loss that gets worse over time (from summary)
- Hearing loss from the inner ear
- Shaky eye movements (nystagmus)
- Eyes that turn inward
- Thickened heart muscle
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in TMEM126A are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with United Mitochondrial Disease Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the TMEM126A gene. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: optic atrophy 7; optic atrophy 7 with or without auditory neuropathy; tmem126a-related optic atrophy with or without extraocular features
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive optic atrophy, OPA7 type.
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