RT Journal Article SR Electronic T1 Gene editing preserves visual function in a mouse model of retinal degeneration JF bioRxiv FD Cold Spring Harbor Laboratory SP 624858 DO 10.1101/624858 A1 Paola Vagni A1 Laura E. Perlini A1 Naïg A. L. Chenais A1 Tommaso Marchetti A1 Martina Parrini A1 Andrea Contestabile A1 Laura Cancedda A1 Diego Ghezzi YR 2019 UL http://biorxiv.org/content/early/2019/05/02/624858.abstract AB Inherited retinal dystrophies are a large and heterogeneous group of degenerative diseases caused by mutations in various genes. Given the favourable anatomical and immunological characteristics of the eye, gene therapy holds great potential for their treatment. We used a tailored CRISPR/Cas9-based gene editing system to prevent retinal photoreceptor death in the Rd10 mouse model of retinitis pigmentosa. We tested the gene editing tool in vitro and then used in vivo subretinal electroporation to deliver it to one of the retinas of mouse pups at different stages of photoreceptor differentiation. Three months after gene editing, the treated eye exhibited a higher visual acuity compared to the untreated eye. Moreover, we observed preservation of light-evoked responses both in explanted retinas and in the visual cortex of treated animals. Our study validates a CRISPR/Cas9-based therapy as a valuable new approach for the treatment of retinitis pigmentosa caused by autosomal recessive loss-of-function point mutations.