Living with Auditory neuropathy-optic atrophy syndrome
A rare mitochondrial condition that causes hearing and vision loss starting in childhood or the teen years.
Understanding Auditory neuropathy-optic atrophy syndrome
People have hearing and vision problems in the first or second decade of life. Psychomotor development is normal. Retinitis pigmentosa has been reported along with it.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss
- Optic nerve damage (optic atrophy)
- Vision loss
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, ear, nose, and throat specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in FDXR 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
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); 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
GARD says changes in the FDXR gene cause this condition. It lists autosomal recessive and mitochondrial inheritance.
Also known as: anoa; auditory neuropathy and optic atrophy; auditory neuropathy, optic atrophy syndrome; multiple mitochondrial dysfunctions syndrome 9a
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 Auditory neuropathy-optic atrophy syndrome.
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