September 2021
Volume 21, Issue 9
Open Access
Vision Sciences Society Annual Meeting Abstract  |   September 2021
Visual cortex stability and plasticity in the absence of functional cones in achromatopsia
Author Affiliations & Notes
  • Michael B. Hoffmann
    Otto-von-Guericke University
  • Barbara Molz
    Dpt Psychology, University of York, UK
  • Anne Herbik
    Otto-von-Guericke University
  • Peter de Best
    fMRI Unit, Department of Neurology, Hadassah Medical Center, Israel
  • Noa Raz
    fMRI Unit, Department of Neurology, Hadassah Medical Center, Israel
  • Andre Gouws
    Hull York Medical School, University of York, UK
  • Khazar Ahmadi
    Otto-von-Guericke University
  • Rebecca Lowndes
    Hull York Medical School, University of York, UK
  • Rebecca McLean
    University of Leicester Ulverscroft Eye Unit, UK
  • Susanne Kohl
    Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Clinics Tübingen, Germany
  • Irene Gottlob
    University of Leicester Ulverscroft Eye Unit, UK
  • Lars Choritz
    Otto-von-Guericke University
  • John Maguire
    School of Optometry and Vision Sciences, University of Bradford, UK
  • Martin Kanowski
    Dpt Neurology, University Hospital, Otto-von-Guericke University, Magdeburg, Germany
  • Barbara Käsmann-Kellner
    Dpt Ophthalmology, Saarland University Hospital, Homburg, Germany
  • Ilse Wieland
    Dpt Molecular Genetics, Institute for Human Genetics, Otto-von-Guericke University, Magdeburg, Germany
  • Eyal Banin
    Dpt Ophthalmology, Hadassah Medical Center, Israel
  • Netta Levine
    fMRI Unit, Department of Neurology, Hadassah Medical Center, Israel
  • Heidi Basler
    Dpt Psychology, University of York, UK
    Hull York Medical School, University of York, UK
  • Morland Antony
    Dpt Psychology, University of York, UK
    York Biomedical Research Institute, University of York, UK
  • Footnotes
    Acknowledgements  This project was supported by European Union’s Horizon 2020 research and innovation programme under the Marie Sklodowska-Curie grant agreement (No. 641805) and the German Research Foundation (DFG, HO 2002/12-1)
Journal of Vision September 2021, Vol.21, 2062. doi:https://doi.org/10.1167/jov.21.9.2062
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Michael B. Hoffmann, Barbara Molz, Anne Herbik, Peter de Best, Noa Raz, Andre Gouws, Khazar Ahmadi, Rebecca Lowndes, Rebecca McLean, Susanne Kohl, Irene Gottlob, Lars Choritz, John Maguire, Martin Kanowski, Barbara Käsmann-Kellner, Ilse Wieland, Eyal Banin, Netta Levine, Heidi Basler, Morland Antony; Visual cortex stability and plasticity in the absence of functional cones in achromatopsia. Journal of Vision 2021;21(9):2062. doi: https://doi.org/10.1167/jov.21.9.2062.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Purpose: Complete achromatopsia (ACHM) is a rare inherited disorder with non-functional retinal cone photoreceptors and a deafferented foveal representation in V1. Here we investigated whether remapping of the deafferented foveal representation to process paracentral inputs [1] is a group feature in ACHM. Such remapping might interfere with gene therapeutic treatments aimed at restoring cone function. Methods: In a multi-center study we applied fMRI assessments in a cohort of 18 ACHM individuals with confirmed biallelic CNGA3 or CNGB3 mutations and a control cohort (HC). Two independent mapping approaches, conventional phase-encoded eccentricity mapping and population receptive field (pRF) mapping, were applied for both scotopic and photopic stimulation conditions. fMRI-based measures (percentage of active V1, eccentricity, pRF size) were extracted from two anatomically defined V1 regions of interest (ROI), one ROI corresponding to the central visual field (0°-4°) and one ROI corresponding to the paracentral visual field (4°-8°). Two-way ANOVAs with the factors ROI and GROUP (ACHM vs HC) were conducted, comparing scotopic HC data to photopic ACHM data. We hypothesized that remapping associated with the lack of foveal input to V1 in ACHM would lead to a significant interaction of ROIxGROUP. Results: While there were significant effects of the factors ROI and GROUP, no significant interactions (ROIxGROUP) were observed for percentage active voxels (p = 0.7), mean pRF eccentricity (p = 0.3), or mean pRF size (p = 0.6). The results were supported by phase-encoded retinotopic data. Conclusion: Sizeable remapping of the primary visual cortex is not apparent at the group level. We suggest that while functional reorganisation of the primary visual cortex might be evident in specific individuals, it is not a general feature in ACHM.

×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×