Retinitis pigmentosa (RP) is a severe retinal disease characterized by a progressive degeneration of rod photoreceptors and a secondary loss of cone function. Here, we used CNGB1-deficient (CNGB1−/−) mice, a mouse model for autosomal recessive RP, to evaluate the efficacy of adeno-associated virus (AAV) vector-mediated gene therapy for the treatment of RP. The treatment restored normal expression of rod CNG channels and rod-driven light responses in the CNGB1−/− retina. This led to a substantial delay of retinal degeneration and longterm preservation of retinal morphology. Finally, treated CNGB1−/− mice performed significantly better than untreated mice in a rod-dependent vision-guided behavior test. In summary, this study holds promise for the treatment of rod channelopathyassociated retinitis pigmentosa by AAV-mediated gene replacement.
CITATION STYLE
Michalakis, S., Koch, S., Sothilingam, V., Garrido, M. G., Tanimoto, N., Schulze, E., … Biel, M. (2014). Gene therapy restores vision and delays degeneration in the CNGB1−/− mouse model of retinitis pigmentosa. Advances in Experimental Medicine and Biology, 801, 733–739. https://doi.org/10.1007/978-1-4614-3209-8_92
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