Hereditary retinal dystrophies (retinitis pigmentosa, Leber congenital amaurosis, cone-rod dystrophies, macular degeneration) are characterized by loss of visual function, sometimes starting during early childhood, other times in late adulthood. About 30% of these dystrophies are inherited in an autosomal dominant fashion (RetNet), caused by gain-of-function mutant alleles which encode a malignant form of a normal protein. Continue reading “Notable Paper: Long-term RNA interference gene therapy in a dominant retinitis pigmentosa mouse model”
Cone Opsin Determines The Time Course of Cone Photoreceptor Degeneration in Leber Congenital Amaurosis
It is been long known that ventral and central cones degenerate more rapidly than dorsal cones in retinoid-deprived LCA (Leber’s Congenital Amaurosis) models. This paper in PNAS by Tao Zhang, Wolfgang Baehr…