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Leber congenital amaurosis (not to be confused with Leber optic neuropathy) is a rare autosomal recessive retinal degenerative disorder that causes vision impairment from infancy and leads to early-life blindness and photoreceptor death. One form of this disorder, LCA2, is caused by a defect in a retinal pigment epithelial gene, RPE65. This gene codes for an enzyme responsible for converting all-trans-retinyl esters (vitamin A derivatives) to the light-absorbing visual pigments.
Two scientific groups have now performed preliminary studies of a gene-replacement therapy for LCA2. The therapy involved subretinal injection of an adeno-associated virus (AAV) vector carrying the RPE65 gene to treat severe visual impairment in the more-affected eye…