Living with Leber congenital amaurosis 2
A severe inherited retinal condition that causes vision loss starting in early childhood.
Understanding Leber congenital amaurosis 2
It typically shows up between birth and age five. Central vision varies, but vision is very reduced even though the retina can look fairly normal. Vision is relatively stable in the first ten years of life and then begins to decline in adolescence.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Reduced clarity of vision (reduced visual acuity)
- Involuntary eye movements (nystagmus)
- Night blindness (nyctalopia)
- Narrowed blood vessels in the back of the eye
- Pale optic nerve disc (optic disc pallor)
- No measurable light response on an eye test (electroretinogram)
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.
- 4Connect with expert centers
Foundation Fighting Blindness may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: Foundation Fighting Blindness
- 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 Foundation Fighting Blindness 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 RPE65 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: amaurosis congenita of leber ii; lca2; leber congenital amaurosis caused by mutation in rpe65; leber congenital amaurosis type 2; rpe65 leber congenital amaurosis; rpe65-related leber congenital amaurosis
Patient organizations
- Foundation Fighting BlindnessLeber congenital amaurosis 2 · United States
- Hope in FocusLeber congenital amaurosis 2 · United States
- Prevent Blindness AmericaLeber congenital amaurosis 2 · United States
You are more than your diagnosis
Perspectives from people navigating life with Leber congenital amaurosis 2.
Explore research for Leber congenital amaurosis 2
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