Living with Optic atrophy 2
A rare X-linked condition starting in early childhood, with steady loss of sharpness of vision from damage to the optic nerve.
Understanding Optic atrophy 2
It starts in early childhood and has been seen in only four families. The optic nerve looks pale, and some people have other nervous system features. Females are unaffected. GARD lists childhood as the usual onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Progressive loss of vision
- Reduced sharpness of vision
- Optic nerve damage (optic atrophy) and pale optic disc
- Central blind spot
- Trouble with color vision
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- 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 changes in genes cause this condition. It is inherited in an X-linked way, and females are unaffected.
Also known as: early-onset x-linked optic atrophy; non-leber type optic atrophy with early-onset; opa2; optic atrophy 2, x-linked; optic atrophy type 2; optic atrophy, non-leber type, with early onset
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 2.
Explore research for Optic atrophy 2
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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