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Article

Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness

21 Mar 2018

Abstract excerpt

Most genetically distinct inherited retinal degenerations are primary photoreceptor degenerations. We selected a severe early onset form of Leber congenital amaurosis (LCA), caused by mutations in the gene LCA5, in order to test the efficacy of gene augmentation therapy for a ciliopathy. The LCA5-encoded protein, Lebercilin, is essential for the trafficking of proteins and vesicles to the photoreceptor outer...

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PMID: 29673930
DOI: 10.1016/j.ymthe.2018.03.015

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