Article
Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.
The Journal of clinical investigation - 2 Jan 2018
Petersen-Jones Simon M, Occelli Laurence M, Winkler Paige A, Lee Winston, Sparrow Janet R, Tsukikawa Mai, Boye Sanford L, Chiodo Vince, Capasso Jenina E, Becirovic Elvir, Schön Christian, Seeliger Mathias W, Levin Alex V, Michalakis Stylianos, Hauswirth William W, Tsang Stephen H
Abstract excerpt
Retinitis pigmentosa (RP) is a major cause of blindness that affects 1.5 million people worldwide. Mutations in cyclic nucleotide-gated channel β 1 (CNGB1) cause approximately 4% of autosomal recessive RP. Gene augmentation therapy shows promise for treating inherited retinal degenerations; however, relevant animal models and biomarkers of progression in patients with RP are needed to assess therapeutic outcomes....
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