Inherited blindness investigated

Leber congenital amaurosis (LCA) is an untreatable inherited condition that usually causes total blindness from birth. Researchers will track a protein called AIPL1, which should be present in the cone and rod cells of the eye in childhood. In LCA, the AIPL1 protein is absent from the cone cells, resulting in blindness. The hope is that they can discover why the AIPL1 gene is inactivated.

BBC News

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