Living with Optic atrophy 6
A rare inherited eye disease with slowly worsening vision from early in life, caused by optic nerve damage alone.
Understanding Optic atrophy 6
Mild light sensitivity and trouble telling red from green may be present. Nystagmus (quick eye movements) and optic neuropathy are absent. GARD links the condition to changes mapped to chromosome 8q21-q22.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Damage to the optic nerve (optic atrophy)
- Reduced vision
- Sensitivity to light (photophobia)
- Red-green color confusion
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 it is caused by changes mapped to chromosome 8q21-q22. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: opa6; optic atrophy, congenital or early infantile, autosomal recessive
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Optic atrophy 6.
Explore research for Optic atrophy 6
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