Photoreceptor cell rescue in retinal degeneration (rd) mice by in vivo gene therapy

Abstract

Mutations in the β subunit of the cGMP phosphodiesterase gene (βPDE) can cause a recessively inherited retinal degeneration in several species, including mice, dogs and humans. We tested the possibility of altering the course of retinal degeneration in the rd mouse through subretinal injection of a recombinant replication–defective adenovirus that contains the murine cDNA for wild–type βPDE, Ad.CMVβPDE. Subretinal injection of Ad.CMVβPDE results in βPDE transcripts and increased PDE activity and delays photoreceptor cell death by six weeks. The findings demonstrate cell rescue by in vivo gene transfer, thus supporting the feasibility of treating an inherited retinal degeneration by somatic gene therapy.