Importance Achromatopsia linked to variations in theCNGA3gene is associated with day
blindness, poor visual acuity, photophobia, and involuntary eye movements owing to lack of …

Aims To determine long-term safety and efficacy outcomes of a subretinal gene therapy for
CNGA3-associated achromatopsia. We present data from an open-label, nonrandomised …

The successful restoration of visual function with recombinant adeno-associated virus
(rAAV)-mediated gene replacement therapy in animals and humans with an inherited …

Achromatopsia is a rare autosomal recessive disorder which shows color blindness,
severely impaired visual acuity, and extreme sensitivity to bright light. Mutations in the alpha …

Ocular gene therapy has evolved rapidly into the clinical realm due to promising pre-clinical
proof-of-concept studies, recognition of the high unmet medical need of blinding disorders …

Achromatopsia is a hereditary form of day blindness caused by cone photoreceptor
dysfunction. Affected patients suffer from congenital color blindness, photosensitivity, and …

Gene therapy using recombinant adeno‐associated virus (rAAV) vectors to treat blinding
retinal dystrophies has become clinical reality. Therapeutically impactful targeting of …

Purpose Achromatopsia (ACHM) is a congenital, autosomal recessive retinal disease that
manifests cone dysfunction, reduced visual acuity and color vision, nystagmus, and …

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

Loss of cone function in the central retina is a pivotal event in the development of severe
vision impairment for many prevalent blinding diseases. Complete achromatopsia is a …