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...
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| Format: | Article |
| Language: | English |
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Elsevier
2022-01-01
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| Series: | NeuroImage: Clinical |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2213158221003697 |
| _version_ | 1828857056863453184 |
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| author | Barbara Molz Anne Herbik Heidi A. Baseler Pieter B. de Best Richard W. Vernon Noa Raz Andre D. Gouws Khazar Ahmadi Rebecca Lowndes Rebecca J. McLean Irene Gottlob Susanne Kohl Lars Choritz John Maguire Martin Kanowski Barbara Käsmann-Kellner Ilse Wieland Eyal Banin Netta Levin Michael B. Hoffmann Antony B. Morland |
| author_facet | Barbara Molz Anne Herbik Heidi A. Baseler Pieter B. de Best Richard W. Vernon Noa Raz Andre D. Gouws Khazar Ahmadi Rebecca Lowndes Rebecca J. McLean Irene Gottlob Susanne Kohl Lars Choritz John Maguire Martin Kanowski Barbara Käsmann-Kellner Ilse Wieland Eyal Banin Netta Levin Michael B. Hoffmann Antony B. Morland |
| author_sort | Barbara Molz |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-13T01:28:14Z |
| format | Article |
| id | doaj.art-5b376ad1773c4fc9a913d40790812f34 |
| institution | Directory Open Access Journal |
| issn | 2213-1582 |
| language | English |
| last_indexed | 2024-12-13T01:28:14Z |
| publishDate | 2022-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | NeuroImage: Clinical |
| spelling | doaj.art-5b376ad1773c4fc9a913d40790812f342022-12-22T00:04:04ZengElsevierNeuroImage: Clinical2213-15822022-01-0133102925Structural changes to primary visual cortex in the congenital absence of cone input in achromatopsiaBarbara Molz0Anne Herbik1Heidi A. Baseler2Pieter B. de Best3Richard W. Vernon4Noa Raz5Andre D. Gouws6Khazar Ahmadi7Rebecca Lowndes8Rebecca J. McLean9Irene Gottlob10Susanne Kohl11Lars Choritz12John Maguire13Martin Kanowski14Barbara Käsmann-Kellner15Ilse Wieland16Eyal Banin17Netta Levin18Michael B. Hoffmann19Antony B. Morland20Department of Psychology, University of York, Heslington, YO10 5DD York, United Kingdom; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, NetherlandsDepartment of Ophthalmology, University Hospital, Otto-von-Guericke University, 39120 Magdeburg, GermanyDepartment of Psychology, University of York, Heslington, YO10 5DD York, United Kingdom; Hull York Medical School, University of York, Heslington, YO10 5DD York, United Kingdom; York Biomedical Research Institute, University of York, Heslington, YO10 5DD York, United KingdomMRI Unit, Department of Neurology, Hadassah Medical Center, 91120 Jerusalem, IsraelDepartment of Psychology, University of York, Heslington, YO10 5DD York, United KingdomMRI Unit, Department of Neurology, Hadassah Medical Center, 91120 Jerusalem, IsraelYork Neuroimaging Centre, Department of Psychology, University of York, YO10 5NY York, United KingdomDepartment of Ophthalmology, University Hospital, Otto-von-Guericke University, 39120 Magdeburg, GermanyYork Neuroimaging Centre, Department of Psychology, University of York, YO10 5NY York, United KingdomUniversity of Leicester Ulverscroft Eye Unit, University of Leicester, Leicester Royal Infirmary, LE2 7LX Leicester, United KingdomUniversity of Leicester Ulverscroft Eye Unit, University of Leicester, Leicester Royal Infirmary, LE2 7LX Leicester, United KingdomMolecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Clinics Tübingen, 72076 Tübingen, GermanyDepartment of Ophthalmology, University Hospital, Otto-von-Guericke University, 39120 Magdeburg, GermanySchool of Optometry and Vision Sciences, University of Bradford, BD7 1DP Bradford, United KingdomDepartment of Neurology, University Hospital, Otto-von-Guericke University, 39120 Magdeburg, GermanyDepartment of Ophthalmology, Saarland University Hospital and Medical Faculty of the Saarland University, 66421 Homburg, GermanyDepartment for Molecular Genetics, Institute for Human Genetics, University Hospital, Otto-von-Guericke University, 39120 Magdeburg, GermanyDegenerative Diseases of the Retina Unit, Department of Ophthalmology, Hadassah Medical Center, 91120 Jerusalem, IsraelMRI Unit, Department of Neurology, Hadassah Medical Center, 91120 Jerusalem, IsraelDepartment of Ophthalmology, University Hospital, Otto-von-Guericke University, 39120 Magdeburg, Germany; Center for Behavioral Brain Sciences, 39106 Magdeburg, GermanyDepartment of Psychology, University of York, Heslington, YO10 5DD York, United Kingdom; York Biomedical Research Institute, University of York, Heslington, YO10 5DD York, United Kingdom; York Neuroimaging Centre, Department of Psychology, University of York, YO10 5NY York, United Kingdom; Corresponding author at: Department of Psychology, University of York, Heslington, YO10 5DD York, United Kingdom.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.http://www.sciencedirect.com/science/article/pii/S2213158221003697AchromatopsiasMRISurface-based morphologyPlasticityPrimary visual cortex |
| spellingShingle | Barbara Molz Anne Herbik Heidi A. Baseler Pieter B. de Best Richard W. Vernon Noa Raz Andre D. Gouws Khazar Ahmadi Rebecca Lowndes Rebecca J. McLean Irene Gottlob Susanne Kohl Lars Choritz John Maguire Martin Kanowski Barbara Käsmann-Kellner Ilse Wieland Eyal Banin Netta Levin Michael B. Hoffmann Antony B. Morland Structural changes to primary visual cortex in the congenital absence of cone input in achromatopsia NeuroImage: Clinical Achromatopsia sMRI Surface-based morphology Plasticity Primary visual cortex |
| 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 | Achromatopsia sMRI Surface-based morphology Plasticity Primary visual cortex |
| url | http://www.sciencedirect.com/science/article/pii/S2213158221003697 |
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