TY - JOUR
T1 - Structural Differences Across Multiple Visual Cortical Regions in the Absence of Cone Function in Congenital Achromatopsia
AU - Lowndes, Rebecca
AU - Molz, Barbara
AU - Warriner, Lucy
AU - Herbik, Anne
AU - de Best, Pieter B.
AU - Raz, Noa
AU - Gouws, Andre
AU - Ahmadi, Khazar
AU - McLean, Rebecca J.
AU - Gottlob, Irene
AU - Kohl, Susanne
AU - Choritz, Lars
AU - Maguire, John
AU - Kanowski, Martin
AU - Käsmann-Kellner, Barbara
AU - Wieland, Ilse
AU - Banin, Eyal
AU - Levin, Netta
AU - Hoffmann, Michael B.
AU - Morland, Antony B.
AU - Baseler, Heidi A.
N1 - Publisher Copyright:
© Copyright © 2021 Lowndes, Molz, Warriner, Herbik, de Best, Raz, Gouws, Ahmadi, McLean, Gottlob, Kohl, Choritz, Maguire, Kanowski, Käsmann-Kellner, Wieland, Banin, Levin, Hoffmann, Morland and Baseler.
PY - 2021/10/14
Y1 - 2021/10/14
N2 - Most individuals with congenital achromatopsia (ACHM) carry mutations that affect the retinal phototransduction pathway of cone photoreceptors, fundamental to both high acuity vision and colour perception. As the central fovea is occupied solely by cones, achromats have an absence of retinal input to the visual cortex and a small central area of blindness. Additionally, those with complete ACHM have no colour perception, and colour processing regions of the ventral cortex also lack typical chromatic signals from the cones. This study examined the cortical morphology (grey matter volume, cortical thickness, and cortical surface area) of multiple visual cortical regions in ACHM (n = 15) compared to normally sighted controls (n = 42) to determine the cortical changes that are associated with the retinal characteristics of ACHM. Surface-based morphometry was applied to T1-weighted MRI in atlas-defined early, ventral and dorsal visual regions of interest. Reduced grey matter volume in V1, V2, V3, and V4 was found in ACHM compared to controls, driven by a reduction in cortical surface area as there was no significant reduction in cortical thickness. Cortical surface area (but not thickness) was reduced in a wide range of areas (V1, V2, V3, TO1, V4, and LO1). Reduction in early visual areas with large foveal representations (V1, V2, and V3) suggests that the lack of foveal input to the visual cortex was a major driving factor in morphological changes in ACHM. However, the significant reduction in ventral area V4 coupled with the lack of difference in dorsal areas V3a and V3b suggest that deprivation of chromatic signals to visual cortex in ACHM may also contribute to changes in cortical morphology. This research shows that the congenital lack of cone input to the visual cortex can lead to widespread structural changes across multiple visual areas.
AB - Most individuals with congenital achromatopsia (ACHM) carry mutations that affect the retinal phototransduction pathway of cone photoreceptors, fundamental to both high acuity vision and colour perception. As the central fovea is occupied solely by cones, achromats have an absence of retinal input to the visual cortex and a small central area of blindness. Additionally, those with complete ACHM have no colour perception, and colour processing regions of the ventral cortex also lack typical chromatic signals from the cones. This study examined the cortical morphology (grey matter volume, cortical thickness, and cortical surface area) of multiple visual cortical regions in ACHM (n = 15) compared to normally sighted controls (n = 42) to determine the cortical changes that are associated with the retinal characteristics of ACHM. Surface-based morphometry was applied to T1-weighted MRI in atlas-defined early, ventral and dorsal visual regions of interest. Reduced grey matter volume in V1, V2, V3, and V4 was found in ACHM compared to controls, driven by a reduction in cortical surface area as there was no significant reduction in cortical thickness. Cortical surface area (but not thickness) was reduced in a wide range of areas (V1, V2, V3, TO1, V4, and LO1). Reduction in early visual areas with large foveal representations (V1, V2, and V3) suggests that the lack of foveal input to the visual cortex was a major driving factor in morphological changes in ACHM. However, the significant reduction in ventral area V4 coupled with the lack of difference in dorsal areas V3a and V3b suggest that deprivation of chromatic signals to visual cortex in ACHM may also contribute to changes in cortical morphology. This research shows that the congenital lack of cone input to the visual cortex can lead to widespread structural changes across multiple visual areas.
KW - achromatopsia
KW - anatomical brain regions
KW - congenital visual impairment
KW - parallel visual pathways
KW - structural plasticity
KW - ventral and dorsal pathways
KW - visual areas
UR - http://www.scopus.com/inward/record.url?scp=85118309942&partnerID=8YFLogxK
U2 - 10.3389/fnins.2021.718958
DO - 10.3389/fnins.2021.718958
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AN - SCOPUS:85118309942
SN - 1662-4548
VL - 15
JO - Frontiers in Neuroscience
JF - Frontiers in Neuroscience
M1 - 718958
ER -