Erin R Burnight, Joseph C Giacalone, Jessica A Cooke, Jessica R Thompson, Laura R Bohrer, Kathleen R Chirco, Arlene V Drack, John H Fingert, Kristan S Worthington, Luke A Wiley, Robert F Mullins, Edwin M Stone, Budd A Tucker
Gene correction is a valuable strategy for treating inherited retinal degenerative diseases, a major cause of irreversible blindness worldwide. Single gene defects cause the majority of these retinal dystrophies. Gene augmentation holds great promise if delivered early in the course of the disease, however, many patients carry mutations in genes too large to be packaged into adeno-associated viral vectors and some, when overexpressed via heterologous promoters, induce retinal toxicity. In addition to the aforementioned challenges, some patients have sustained significant photoreceptor cell loss at the time of diagnosis, rendering gene replacement therapy insufficient to treat the disease...
March 22, 2018: Progress in Retinal and Eye Research