Living with Autosomal dominant optic atrophy classic form
An inherited eye nerve condition that slowly causes vision loss in both eyes.
Understanding Autosomal dominant optic atrophy classic form
It is one of the most common forms of inherited optic nerve disease. Vision loss gets worse over time and usually begins in the first ten years of life. It can include trouble with color vision and gaps in the field of view.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Damage to the optic nerve (optic atrophy)
- Moderately reduced sharpness of vision
- Abnormal color vision
- Pale area on the optic nerve (optic disc pallor)
- Inner ear hearing loss (sensorineural)
- Nerve damage affecting feeling and movement
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 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 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 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
It is caused by changes in the OPA1 gene. GARD lists autosomal dominant and mitochondrial inheritance.
Also known as: autosomal dominant optic atrophy kjer type; autosomal dominant optic atrophy, classic form; autosomal dominant optic atrophy, kjer type; kjer optic atrophy; kjer-type optic atrophy; opa1
Patient organizations
- Autosomal Dominant Optic Atrophy AssociationAutosomal dominant optic atrophy classic form · United States
- Prevent Blindness AmericaAutosomal dominant optic atrophy classic form · United States
- 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 classic form.
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