Achromatopsia-Visual Cortex Stability and Plasticity in the Absence of Functional Cones.

ABSTRACT:

Purpose

Achromatopsia is a rare inherited disorder rendering retinal cone photoreceptors nonfunctional. As a consequence, the sizable foveal representation in the visual cortex is congenitally deprived of visual input, which prompts a fundamental question: is the cortical representation of the central visual field in patients with achromatopsia remapped to take up processing of paracentral inputs? Such remapping might interfere with gene therapeutic treatments aimed at restoring cone function.

Methods

We conducted a multicenter study to explore the nature and plasticity of vision in the absence of functional cones in a cohort of 17 individuals affected by autosomal recessive achromatopsia and confirmed biallelic disease-causing CNGA3 or CNGB3 mutations. Specifically, we test

SUBMITTER: Molz B 

PROVIDER: S-EPMC10584018 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature