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Leber Congenital Amaurosis

From SNPedia

Leber congenital amaurosis (LCA) is the most common form of congenital blindness. LCA causes blindness from birth or during the first few months of life. The disorder affects 1 in 30,000 newborns. Discovery of the CEP290 gene and a single mutation found in 20 percent of LCA patients is expected to speed up the genetic testing process for blind children.

Three patients who have been treated with gene therapy in both eyes have experienced dramatic improvement in their vision. BBC News Science Magazine

A single mutation accounts for 20% of childhood blindness. [1]