Of all the inherited retinal dystrophies, LCA — short for Leber Congenital Amaurosis — is generally regarded as the most severe, showing up at birth or within a baby’s first few months and bringing substantial vision impairment from the very start. It’s counted among the leading causes of identifiable blindness in infancy, so families in Rwanda facing this news almost always come to us with pressing questions about what caused it and what happens next.
Because LCA declares itself so early, the way we approach evaluation differs quite a bit from adult-onset retinal disease. Speed is what matters most — reaching a confirmed diagnosis quickly, tracking down the responsible gene wherever that’s possible, and starting developmental and low-vision support for the child without any avoidable delay.

Associate Professor, Vitreo-Retina Surgeon. 10+ Years Experience

Senior Consultant Ophthalmologist & Eye Surgeon· 26+ yrs experience

Consultant Ophthalmologist & Eye Surgeon, MD, DO .16+ Years Experience
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Not necessarily. How much vision is affected depends on the specific gene at play and on the child, and many retain some degree of usable light perception, and sometimes basic form vision too. A thorough assessment tells us exactly what function is present in each individual case.”
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As soon as you notice anything unusual about how they’re seeing or responding visually. Acting early means genetic testing can start sooner — crucial for identifying RPE65-related cases — and means developmental support can begin without wasted time.”
“We’d still strongly suggest it. Since more than twenty genes can cause LCA, knowing precisely which one is involved shapes the prognosis and may open access to gene-specific treatments now available or under development, particularly where RPE65 is the cause.”
“That depends a great deal on the amount of functional vision present and how early support begins. Many children with LCA go on to do well given the right early intervention, and we’d welcome the chance to talk through what that could look like for your child.”
