Living with Autosomal dominant optic atrophy and peripheral neuropathy
A rare genetic condition with vision loss in childhood and weak reflexes in the legs.
Understanding Autosomal dominant optic atrophy and peripheral neuropathy
Vision loss gets worse over time and starts in the first ten years of life. Reflexes in the legs are lower than usual, and there is a mild unsteadiness in standing (mild cerebellar stance). The vision loss is the main problem.
Signs & symptoms
Symptoms vary from person to person. GARD describes these main features:
- Vision loss that gets worse over time
- Lower reflexes in the legs
- Mild unsteadiness when standing
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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
Changes in genes (also called variants) cause this condition. GARD lists autosomal dominant and mitochondrial inheritance but does not name a gene here.
Also known as: autosomal dominant optic atrophy and peripheral neuropathy syndrome
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 dominant optic atrophy and peripheral neuropathy.
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