Abstract
Inherited retinal disorders encompass a large array of genotypically distinct conditions, with over 300 causative genes implicated. Improvements in DNA-sequencing technology and gene-testing strategies have brought up the mutation detection rate to 76%, and the majority of commonly identified genes are small enough to be packaged into an adeno-associated virus for gene therapy. 4 Stone E.M. Andorf J.L. Whitmore S.S. et al. Clinically focused molecular investigation of 1000 consecutive families with inherited retinal disease. Ophthalmology. 2017; 124: 1314-1331 Abstract Full Text Full Text PDF PubMed Scopus (216) Google Scholar This recent progress provides an exciting backdrop to the publication of phase 3 results from Russell and colleagues in the Lancet on the efficacy and safety of gene therapy for RPE65-mediated retinal dystrophies. 3 Russell S. Bennett J. Wellman J.A. et al. Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial. Lancet. 2017; 390: 849-860 Abstract Full Text Full Text PDF PubMed Scopus (885) Google Scholar This trial, sponsored by Spark Therapeutics, represents the culmination of a 2-decade tour de force by the group at the University of Pennsylvania since first reporting their results on gene therapy in RPE65-mutant dogs in 2001. 1 Acland G.M. Aguirre G.D. Ray J. et al. Gene therapy restores vision in a canine model of childhood blindness. Nat Genet. 2001; 28: 92-95 Crossref PubMed Scopus (1032) Google Scholar
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