Published December 22, 2010 - More info
Nonsyndromic recessive retinal dystrophies cause severe visual impairment due to the death of photoreceptor and retinal pigment epithelium cells. These diseases until recently have been considered to be incurable. Molecular genetic studies in the last two decades have revealed the underlying molecular causes in approximately two-thirds of patients. The mammalian eye has been at the forefront of therapeutic trials based on gene augmentation in humans with an early-onset nonsyndromic recessive retinal dystrophy due to mutations in the retinal pigment epithelium–specific protein 65kDa (RPE65) gene. Tremendous challenges still lie ahead to extrapolate these studies to other retinal disease–causing genes, as human gene augmentation studies require testing in animal models for each individual gene and sufficiently large patient cohorts for clinical trials remain to be identified through cost-effective mutation screening protocols.
Anneke I. den Hollander, Aaron Black, Jean Bennett, Frans P.M. Cremers
Original citation: J. Clin. Invest. 2010;120(9):3042–3053. doi:10.1172/JCI42258.
Citation for this corrigendum: J. Clin. Invest. 2011;121(1):456–457. doi:10.1172/JCI45855.
During the preparation of this manuscript, a number of references in table 1 were given incorrectly and references 142 through 150 were omitted from the table and the reference list. The correct table and additional references appear below.
Nonsyndromic recessive retinal dystrophy genes, their associated human phenotypes, animal models, and gene therapy studies
The authors regret the error.