13th Gene for Congenital Blindness Identified


An internation group of scientists have identified the thirteenth gene to be linked to Leber’s congenital amaurosis (LCA), an inherited retinal degenerative disease characterized by severe loss of vision at birth.

The newly-discovered gene, LCA5, is involved in the production of lebercilin, an essential component of photoreceptors in the retina. Lebercilin is found in other tissues as part of the cilia, finger-like projections from the surface of cells capable of moving molecules around. However, mutations in the LCA5 gene only appear to cause defects in the retina.

Considering that clinical trials for a gene therapy to restore eyesight in patients with LCA, these findings may be instrumental in developing methods to treat the different mutations resulting to retinal degeneration.


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