Living with Autosomal dominant optic atrophy plus syndrome
A rare inherited syndrome that causes vision loss, hearing loss, and muscle problems.
Understanding Autosomal dominant optic atrophy plus syndrome
The syndrome involves damage to the optic nerve, which sends signals from the eyes to the brain. Other features include inner ear hearing loss and muscle pain and weakness. Doctors may suspect it when an eye exam shows optic nerve damage. Diagnosis can be confirmed with a muscle biopsy and genetic testing.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Damage to the optic nerve (optic atrophy)
- Vision loss that gets worse over time
- Inner ear hearing loss (sensorineural)
- Muscle disease (myopathy) and weakness
- Drooping of both upper eyelids
- Tiredness (fatigue)
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 brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in OPA1 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, MitoAction and The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction, The Foundation for Peripheral Neuropathy
- 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 Autosomal Dominant Optic Atrophy Association 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
ADOA plus is caused by changes in the OPA1 gene. It is inherited in an autosomal dominant way, so a change in one copy of the gene can cause it.
Also known as: adoa plus; doa+; optic atrophy type 8; optic atrophy-deafness-polyneuropathy-myopathy syndrome; optic atrophy-hearing loss-polyneuropathy-myopathy syndrome
Patient organizations
- Autosomal Dominant Optic Atrophy AssociationAutosomal dominant optic atrophy plus syndrome · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal dominant optic atrophy plus syndrome.
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