Living with Optic atrophy 3
An inherited eye condition with reduced vision, damage to the optic nerves, and cataracts, sometimes with nerve problems elsewhere.
Understanding Optic atrophy 3
Most people have less sharp vision from birth, while others notice problems in early childhood or later. Both eyes are usually affected equally, and severity varies widely, even within a family. Most people also have cataracts (clouded lenses). Some have nystagmus, color vision problems with blue and green, or nerve problems elsewhere in the body. GARD lists childhood as the usual onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Reduced sharpness of vision
- Damage to the optic nerves (optic atrophy)
- Cataracts (clouded lenses)
- Quick, involuntary eye movements (nystagmus)
- Trouble coordinating movement (ataxia)
- Numbness, tingling, or pain (paresthesia)
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 OPA3 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
Changes in the OPA3 gene cause this condition. GARD lists autosomal dominant inheritance, where one changed copy of the gene can be enough, and mitochondrial inheritance.
Also known as: autosomal dominant optic atrophy and cataract; autosomal dominant optic atrophy type 3; opa3; opa3, autosomal dominant; optic atrophy 3 with cataract; optic atrophy 3, autosomal dominant
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 Optic atrophy 3.
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