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Leber's congenital amaurosis
Leber's congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life, and affects around 1 in 80,000 of the population. One form of LCA became well known in the scientific community following its successful treatment with gene therapy in 2008.
LCA was first described by Theodor Leber in the 19th century. It should not be confused with Leber's hereditary optic neuropathy, which is a different disease also described by Theodor Leber.
==Signs and symptoms==
The term congenital refers to a condition present from birth (not acquired) and amaurosis refers to a loss of vision ''not'' associated with a lesion. However, beyond these general descriptions, the presentation of LCA can vary, because it is associated with multiple genes.〔〔
LCA is typically characterized by nystagmus,〔 sluggish or absent pupillary responses, and severe vision loss or blindness.〔
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