Of all the inherited retinal dystrophies, Leber Congenital Amaurosis, or LCA, tends to be the most severe — producing profound vision impairment from birth or within the first few months of life. It’s one of the most frequently identified causes of inherited infant blindness, and understandably, a diagnosis brings a flood of urgent questions from Kenyan parents about what caused it and what can be done right away.
Because LCA shows up so early, evaluation looks quite different from adult-onset retinal dystrophies. The priority becomes confirming the diagnosis fast, pinning down the responsible gene wherever that’s possible, and getting appropriate support for the child’s vision and development started 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
Given how early and how severely LCA presents, our approach pairs a retinal evaluation — including consideration of regenerative stem cell therapy where testing supports it — with prompt low-vision and developmental support appropriate for a young child, since early intervention can genuinely shape a child’s broader development. We guide families through what to expect at each stage as the child grows.
“Not necessarily — how much vision is affected varies by the specific gene and the individual child, and some children retain limited but genuinely useful light perception, or even some form vision. A full evaluation is needed to work out exactly what level of function is present in each case.”
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As soon as poor visual behaviour is noticed. Earlier evaluation lets genetic testing happen sooner — particularly important for identifying RPE65-related cases — and lets developmental support begin without unnecessary delay.”
“Yes. Since LCA can arise from more than twenty different genes, knowing which one is responsible affects the outlook and may matter for eligibility for gene-specific treatments already available or in development, particularly for RPE65-related cases.”
“That depends largely on how much vision remains and how early developmental and low-vision support gets underway. Many children with LCA do well with early intervention, and we’re glad to talk through what that could look like for your child specifically.”
