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Structural Differences Across Multiple Visual Cortical Regions in the Absence of Cone Function in Congenital Achromatopsia
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 t...
Autores principales: | , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8551799/ https://www.ncbi.nlm.nih.gov/pubmed/34720857 http://dx.doi.org/10.3389/fnins.2021.718958 |
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author | Lowndes, Rebecca Molz, Barbara Warriner, Lucy Herbik, Anne de Best, Pieter B. Raz, Noa Gouws, Andre Ahmadi, Khazar McLean, Rebecca J. Gottlob, Irene Kohl, Susanne Choritz, Lars Maguire, John Kanowski, Martin Käsmann-Kellner, Barbara Wieland, Ilse Banin, Eyal Levin, Netta Hoffmann, Michael B. Morland, Antony B. Baseler, Heidi A. |
author_facet | Lowndes, Rebecca Molz, Barbara Warriner, Lucy Herbik, Anne de Best, Pieter B. Raz, Noa Gouws, Andre Ahmadi, Khazar McLean, Rebecca J. Gottlob, Irene Kohl, Susanne Choritz, Lars Maguire, John Kanowski, Martin Käsmann-Kellner, Barbara Wieland, Ilse Banin, Eyal Levin, Netta Hoffmann, Michael B. Morland, Antony B. Baseler, Heidi A. |
author_sort | Lowndes, Rebecca |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-8551799 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-85517992021-10-29 Structural Differences Across Multiple Visual Cortical Regions in the Absence of Cone Function in Congenital Achromatopsia Lowndes, Rebecca Molz, Barbara Warriner, Lucy Herbik, Anne de Best, Pieter B. Raz, Noa Gouws, Andre Ahmadi, Khazar McLean, Rebecca J. Gottlob, Irene Kohl, Susanne Choritz, Lars Maguire, John Kanowski, Martin Käsmann-Kellner, Barbara Wieland, Ilse Banin, Eyal Levin, Netta Hoffmann, Michael B. Morland, Antony B. Baseler, Heidi A. Front Neurosci Neuroscience 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. Frontiers Media S.A. 2021-10-14 /pmc/articles/PMC8551799/ /pubmed/34720857 http://dx.doi.org/10.3389/fnins.2021.718958 Text en 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. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Neuroscience Lowndes, Rebecca Molz, Barbara Warriner, Lucy Herbik, Anne de Best, Pieter B. Raz, Noa Gouws, Andre Ahmadi, Khazar McLean, Rebecca J. Gottlob, Irene Kohl, Susanne Choritz, Lars Maguire, John Kanowski, Martin Käsmann-Kellner, Barbara Wieland, Ilse Banin, Eyal Levin, Netta Hoffmann, Michael B. Morland, Antony B. Baseler, Heidi A. Structural Differences Across Multiple Visual Cortical Regions in the Absence of Cone Function in Congenital Achromatopsia |
title | Structural Differences Across Multiple Visual Cortical Regions in the Absence of Cone Function in Congenital Achromatopsia |
title_full | Structural Differences Across Multiple Visual Cortical Regions in the Absence of Cone Function in Congenital Achromatopsia |
title_fullStr | Structural Differences Across Multiple Visual Cortical Regions in the Absence of Cone Function in Congenital Achromatopsia |
title_full_unstemmed | Structural Differences Across Multiple Visual Cortical Regions in the Absence of Cone Function in Congenital Achromatopsia |
title_short | Structural Differences Across Multiple Visual Cortical Regions in the Absence of Cone Function in Congenital Achromatopsia |
title_sort | structural differences across multiple visual cortical regions in the absence of cone function in congenital achromatopsia |
topic | Neuroscience |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8551799/ https://www.ncbi.nlm.nih.gov/pubmed/34720857 http://dx.doi.org/10.3389/fnins.2021.718958 |
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