Achromatopsia is a rare congenital cause of vision loss due to isolated cone photoreceptor
dysfunction. The most common underlying genetic mutations are autosomal recessive …

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 …

Purpose: To examine repeatability and reproducibility of foveal cone density measurements
in patients with CNGA3-and CNGB3-associated achromatopsia (ACHM) using split …

Purpose: To establish a feasible and sensitive pupillographic protocol to assess outer and
inner retinal function for the first gene therapy trial in achromatopsia patients (ACHM) with …

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

Abstract The CNGA3−/−/Nrl−/− mouse is a cone-dominant model with Cnga3 channel
deficiency, which partially mimics the all cone foveal structure of human achromatopsia 2 …

Adeno-associated viral (AAV) vectors containing cone-specific promoters have rescued
cone photoreceptor function in mouse and dog models of achromatopsia, but cone-specific …

Importance While older children and adults with achromatopsia have been studied, less is
known of young children with achromatopsia. Objectives To characterize the macular and …

Achromatopsia is an autosomal recessive retinal disease involving loss of cone function that
afflicts approximately 1 in 30,000 individuals. Patients with achromatopsia usually have …

The absence of cyclic nucleotide-gated (CNG) channels in cone photoreceptor outer
segments leads to achromatopsia, a severely disabling disease associated with the …