Mutation-independent rhodopsin gene therapy by knockdown and replacement with a single AAV vector.

ABSTRACT: Inherited retinal degenerations are caused by mutations in >250 genes that affect photoreceptor cells or the retinal pigment epithelium and result in vision loss. For autosomal recessive and X-linked retinal degenerations, significant progress has been achieved in the field of gene therapy as evidenced by the growing number of clinical trials and the recent commercialization of the first gene therapy for a form of congenital blindness. However, despite significant efforts to develop a treatment for the most common form of autosomal dominant retinitis pigmentosa (adRP) caused by >150 mutations in the rhodopsin (RHO) gene, translation to the clinic has stalled. Here, we identified a highly efficient shRNA that targets human (and canine) RHO in a mutation-independent manner. In

SUBMITTER: Cideciyan AV 

PROVIDER: S-EPMC6130384 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature