Living with Leber congenital amaurosis
An inherited eye condition present from birth that mainly affects the retina and causes severe vision loss.
Understanding Leber congenital amaurosis
People with LCA typically have severe vision loss beginning at birth or soon after. It may also cause light sensitivity, involuntary eye movements, and farsightedness. Some children press or rub their eyes, a sign called Franceschetti's oculo-digital sign. At least 20 genetic types have been described.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe vision loss
- Sensitivity to light (photophobia)
- Involuntary eye movements (nystagmus)
- Farsightedness (hypermetropia)
- Eye poking or rubbing
- Slow response of the pupils to light
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.
- 4Connect with expert centers
Foundation Fighting Blindness may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- 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 genes, and there are many genetic types. It can be inherited in an autosomal recessive or autosomal dominant way.
Also known as: amaurosis congenita of leber; congenital retinal blindness; crb - congenital retinal blindness; lca; leber amaurosis; leber's amaurosis
Patient organizations
- Foundation Fighting BlindnessLeber congenital amaurosis · United States
- Curing Retinal Blindness FoundationLeber congenital amaurosis · United States
- Prevent Blindness AmericaLeber congenital amaurosis · United States
You are more than your diagnosis
Perspectives from people navigating life with Leber congenital amaurosis.
Explore research for Leber congenital amaurosis
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