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...

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Veröffentlicht in:Frontiers in neuroscience Jg. 15; S. 718958
Hauptverfasser: 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.
Format: Journal Article
Sprache:Englisch
Veröffentlicht: Switzerland Frontiers Media S.A 14.10.2021
Schlagworte:
achromatopsia
anatomical brain regions
congenital visual impairment
Neuroscience
parallel visual pathways
structural plasticity
visual areas
structural plasticity
parallel visual pathways
ventral and dorsal pathways
congenital visual impairment
visual areas
achromatopsia
anatomical brain regions
ISSN:1662-453X, 1662-4548, 1662-453X
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Zusammenfassung: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.
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Reviewed by: Tessa Dekker, University College London, United Kingdom; Manzar Ashtari, University of Pennsylvania, United States
This article was submitted to Perception Science, a section of the journal Frontiers in Neuroscience
These authors have contributed equally to this work and share senior authorship
Edited by: Holly Bridge, University of Oxford, United Kingdom
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ISSN:1662-453X
1662-4548
1662-453X
DOI:10.3389/fnins.2021.718958