Structural changes to primary visual cortex in the congenital absence of cone input in achromatopsia

• DOI: 10.1016/j.nicl.2021.102925
• Publication Date: 2021-12-21T17:18:28Z
• Authors: 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-K...; Ilse Wieland; Eyal Banin; Netta Levin; Michael B. Hoffmann; Antony B. Morland
• Keywords: Achromatopsia

Autosomal recessive Achromatopsia (ACHM) is a rare inherited disorder associated with dysfunctional cone photoreceptors resulting in congenital absence of input to visual cortex. This might lead distinct changes cortical architecture negative impact on the success gene augmentation therapies. To investigate status cortex these patients, we performed multi-centre study focusing structure regions that normally receive predominantly input. Using high-resolution T1-weighted MRI scans and surface-based morphometry, compared thickness, surface area grey matter volume foveal, parafoveal paracentral representations primary 15 individuals ACHM 42 sighted, healthy controls (HC). In ACHM, was reduced all tested representations, while thickening found highly localized most central representation. These results were comparable more widespread brain reported congenitally blind individuals, suggesting similar developmental processes, i.e., irrespective underlying cause extent vision loss. The differences report here could limit treatment adulthood. Interventions earlier life when not different from normal would likely offer better outcomes for those ACHM.