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Structural changes to primary visual cortex in the congenital absence of cone input in achromatopsia
Autosomal recessive Achromatopsia (ACHM) is a rare inherited disorder associated with dysfunctional cone photoreceptors resulting in a congenital absence of cone input to visual cortex. This might lead to distinct changes in cortical architecture with a negative impact on the success of gene augment...
Autores principales: | , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8718719/ https://www.ncbi.nlm.nih.gov/pubmed/34959047 http://dx.doi.org/10.1016/j.nicl.2021.102925 |
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author | Molz, Barbara Herbik, Anne Baseler, Heidi A. de Best, Pieter B. Vernon, Richard W. Raz, Noa Gouws, Andre D. Ahmadi, Khazar Lowndes, Rebecca 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. |
author_facet | Molz, Barbara Herbik, Anne Baseler, Heidi A. de Best, Pieter B. Vernon, Richard W. Raz, Noa Gouws, Andre D. Ahmadi, Khazar Lowndes, Rebecca 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. |
author_sort | Molz, Barbara |
collection | PubMed |
description | Autosomal recessive Achromatopsia (ACHM) is a rare inherited disorder associated with dysfunctional cone photoreceptors resulting in a congenital absence of cone input to visual cortex. This might lead to distinct changes in cortical architecture with a negative impact on the success of gene augmentation therapies. To investigate the status of the visual cortex in these patients, we performed a multi-centre study focusing on the cortical structure of regions that normally receive predominantly cone input. Using high-resolution T1-weighted MRI scans and surface-based morphometry, we compared cortical thickness, surface area and grey matter volume in foveal, parafoveal and paracentral representations of primary visual cortex in 15 individuals with ACHM and 42 normally sighted, healthy controls (HC). In ACHM, surface area was reduced in all tested representations, while thickening of the cortex was found highly localized to the most central representation. These results were comparable to more widespread changes in brain structure reported in congenitally blind individuals, suggesting similar developmental processes, i.e., irrespective of the underlying cause and extent of vision loss. The cortical differences we report here could limit the success of treatment of ACHM in adulthood. Interventions earlier in life when cortical structure is not different from normal would likely offer better visual outcomes for those with ACHM. |
format | Online Article Text |
id | pubmed-8718719 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-87187192022-01-06 Structural changes to primary visual cortex in the congenital absence of cone input in achromatopsia Molz, Barbara Herbik, Anne Baseler, Heidi A. de Best, Pieter B. Vernon, Richard W. Raz, Noa Gouws, Andre D. Ahmadi, Khazar Lowndes, Rebecca 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. Neuroimage Clin Regular Article Autosomal recessive Achromatopsia (ACHM) is a rare inherited disorder associated with dysfunctional cone photoreceptors resulting in a congenital absence of cone input to visual cortex. This might lead to distinct changes in cortical architecture with a negative impact on the success of gene augmentation therapies. To investigate the status of the visual cortex in these patients, we performed a multi-centre study focusing on the cortical structure of regions that normally receive predominantly cone input. Using high-resolution T1-weighted MRI scans and surface-based morphometry, we compared cortical thickness, surface area and grey matter volume in foveal, parafoveal and paracentral representations of primary visual cortex in 15 individuals with ACHM and 42 normally sighted, healthy controls (HC). In ACHM, surface area was reduced in all tested representations, while thickening of the cortex was found highly localized to the most central representation. These results were comparable to more widespread changes in brain structure reported in congenitally blind individuals, suggesting similar developmental processes, i.e., irrespective of the underlying cause and extent of vision loss. The cortical differences we report here could limit the success of treatment of ACHM in adulthood. Interventions earlier in life when cortical structure is not different from normal would likely offer better visual outcomes for those with ACHM. Elsevier 2021-12-21 /pmc/articles/PMC8718719/ /pubmed/34959047 http://dx.doi.org/10.1016/j.nicl.2021.102925 Text en © 2021 Published by Elsevier Inc. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Regular Article Molz, Barbara Herbik, Anne Baseler, Heidi A. de Best, Pieter B. Vernon, Richard W. Raz, Noa Gouws, Andre D. Ahmadi, Khazar Lowndes, Rebecca 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. Structural changes to primary visual cortex in the congenital absence of cone input in achromatopsia |
title | Structural changes to primary visual cortex in the congenital absence of cone input in achromatopsia |
title_full | Structural changes to primary visual cortex in the congenital absence of cone input in achromatopsia |
title_fullStr | Structural changes to primary visual cortex in the congenital absence of cone input in achromatopsia |
title_full_unstemmed | Structural changes to primary visual cortex in the congenital absence of cone input in achromatopsia |
title_short | Structural changes to primary visual cortex in the congenital absence of cone input in achromatopsia |
title_sort | structural changes to primary visual cortex in the congenital absence of cone input in achromatopsia |
topic | Regular Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8718719/ https://www.ncbi.nlm.nih.gov/pubmed/34959047 http://dx.doi.org/10.1016/j.nicl.2021.102925 |
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