Understanding Leber Congenital Amaurosis
A comprehensive resource for patients and families navigating LCA — from diagnosis to the latest gene therapy breakthroughs.
What is LCA?
Leber Congenital Amaurosis (LCA) is a group of inherited retinal dystrophies that cause severe vision loss or blindness from birth or within the first few months of life. It is one of the most common causes of inherited childhood blindness.
Named after Theodor Leber, the German ophthalmologist who first described the condition in 1869.
Key Facts
Inherited Condition
LCA is primarily autosomal recessive — both parents carry one copy of the mutated gene without being affected.
Early Onset
Visual impairment is typically present at birth or within the first 6 months of life.
Retinal Disease
The condition affects the retina — the light-sensitive tissue at the back of the eye responsible for converting light into neural signals.
Treatable Forms
Luxturna, the first FDA-approved gene therapy for an inherited disease, treats RPE65-related LCA.
Genetics of LCA
LCA is caused by mutations in at least 25 different genes. Each gene plays a crucial role in retinal function — from photoreceptor development to the visual cycle.
How LCA is Inherited
Most forms are autosomal recessive: each parent carries one copy of the mutation without symptoms. Each child has a 25% chance of inheriting both copies and being affected.
Rare dominant forms exist (CRX, IMPDH1, OTX2) where only one copy is needed.
Source: GeneReviews — Leber Congenital Amaurosis / EOSRD, MedlinePlus Genetics
Most Common Gene Mutations
Source: GeneReviews, MedlinePlus Genetics
Signs & Symptoms
LCA presents with characteristic signs that are typically noticed in infancy.
Severe Vision Loss
Visual acuity typically 20/400 or worse from birth
Nystagmus
Involuntary, rhythmic eye movements
Sluggish Pupil Response
Absent or slow pupillary light reflexes
Photophobia
Increased sensitivity to light
Eye Poking (Oculo-Digital Sign)
Children press their eyes to stimulate light flashes — a hallmark of LCA
Absent ERG
Electroretinogram shows severely reduced or no electrical response
Treatments & Hope
The field of LCA treatment has seen revolutionary progress. From the first FDA-approved gene therapy to cutting-edge CRISPR approaches, the future is brighter than ever.
Luxturna (Voretigene Neparvovec)
First FDA-approved gene therapy for an inherited disease (2017). Treats RPE65-related LCA by delivering a functional gene via subretinal injection.
Gene Therapy Trials
Multiple clinical trials are underway for GUCY2D (LCA1), AIPL1 (LCA4), LCA5, and other subtypes.
CRISPR Gene Editing
EDIT-101, the first in vivo CRISPR therapy in humans, targets the CEP290 mutation in LCA10.
RNA Therapies
Sepofarsen targets CEP290 mutations via antisense oligonucleotide, administered by intravitreal injection.
Resources & Support
You are not alone. Organizations worldwide provide support, genetic testing, research funding, and community connections for LCA families.
Together for LCA Families
We are building this resource with the support of organizations and individuals dedicated to the LCA community.
Take the First Step
Genetic testing can identify the specific gene causing LCA, determine eligibility for treatments and clinical trials, and guide family planning.
Learn About Genetic TestingThis website provides educational information only and is not a substitute for professional medical advice.