Abstract
Leber congenital amaurosis (LCA) is a retinal dystrophy of congenital onset first described by Theodor Leber in 1869 [1]. The condition is part of a spectrum of early retinal blindness and is continuous in age of onset with early-onset retinal dystrophy (EORD), which generally presents in the first few years of life, rather than at, or immediately after birth. With an incidence of around 1/80.000 [2], LCA is thought to be responsible for up to 18 % of blindness in children [3]. The condition represents a clinically and genetically heterogeneous group of disorders, with little or no retinal sensitivity at birth or shortly thereafter [4–6].
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