Achromatopsia-Visual Cortex Stability and Plasticity in the Absence of Functional Cones.
Invest Ophthalmol Vis Sci
; 64(13): 23, 2023 10 03.
Article
in En
| MEDLINE
| ID: mdl-37847226
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 tested the hypothesis of foveal remapping in human achromatopsia. For this purpose, we applied two independent functional magnetic resonance imaging (fMRI)-based mapping approaches, i.e. conventional phase-encoded eccentricity and population receptive field mapping, to separate data sets.Results:
Both fMRI approaches produced the same result in the group comparison of achromatopsia versus healthy controls sizable remapping of the representation of the central visual field in the primary visual cortex was not apparent.Conclusions:
Remapping of the cortical representation of the central visual field is not a general feature in achromatopsia. It is concluded that plasticity of the human primary visual cortex is less pronounced than previously assumed. A pretherapeutic imaging workup is proposed to optimize interventions.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Visual Cortex
/
Color Vision Defects
Limits:
Humans
Language:
En
Journal:
Invest Ophthalmol Vis Sci
Year:
2023
Document type:
Article
Affiliation country:
Reino Unido