Achromatopsia type 2 (ACHM2) is a severe, inherited eye disease caused by mutations in
the CNGA3 gene encoding the α subunit of the cone photoreceptor cyclic nucleotide-gated …

Cone vision mediated by photoreceptor cyclic nucleotide‐gated (CNG) channel activation is
essential for central and color vision and visual acuity. Mutations in genes encoding the …

Background Color vision deficiencies are a group of vision disorders, characterized by
abnormal color discrimination. They include red-green color blindness, yellow-blue color …

Complete achromatopsia is a rare, autosomal recessive disorder characterized by
photophobia, low visual acuity, nystagmus and a total inability to distinguish colours. In this …

Common variation in colour vision exists among both colour normal and colour deficient
subjects. Differences at a few amino acid positions that influence the spectra of the L and M …

Applied Genetic Technologies Corporation (AGTC) is developing rAAV2tYF-PR1. 7-
hCNGB3, a recombinant adeno-associated virus (rAAV) vector expressing the human …

BACKGROUND: Achromatopsia is a congenital, autosomal recessively inherited condition
in which cones are either defective or absent. Complete achromatopsia results from having …

Cyclic nucleotide-gated (CNG) channels play a pivotal role in phototransduction. Mutations
in the cone CNG channel subunits CNGA3 and CNGB3 account for> 70% of all known …

Purpose: To investigate retinal structure in subjects with CNGA3-associated achromatopsia
and evaluate disease symmetry and intrafamilial variability. Methods: Thirty-eight …

Purpose To characterize retinal structure and function in achromatopsia (ACHM) in
preparation for clinical trials of gene therapy. Design Cross-sectional study. Participants …