First-in-Human Gene Therapy Trial of AAV8-hCARp.hCNGB3 in Adults and Children with CNGB3-associated Achromatopsia

Achromatopsia (ACHM) is a rare, autosomal, recessive, predominantly stationary cone dysfunction syndrome affecting an estimated 1 in 30,000 births worldwide.1-3 This disabling congenital disorder is characterized by absent or markedly impaired color discrimination, reduced visual acuity (VA; usually 20/200), central scotoma, eccentric fixation, disabling sensitivity to light (ie, photoaversion [PA]), and pendular nystagmus.2-4 It is primarily caused by sequence variants in genes that are critical to phototransduction in cone photoreceptors; most cases are associated with changes in either CNGA3 or CNGB3, which encode the α- and β-subunits of the cyclic nucleotide-gated (CNG) channels, respectively.

Source: American Journal of Ophthalmology - May 10, 2023 Category: Opthalmology Authors: Michel Michaelides, Nashila Hirji, Sui Chien Wong, Cagri G. Besirli, Serena Zaman, Neruban Kumaran, Anastasios Georgiadis, Alexander J. Smith, Caterina Ripamonti, Irene Gottlob, Anthony G. Robson, Alberta Thiadens, Robert H. Henderson, Penny Fleck, Eddy A Tags: Original Articles Source Type: research