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

Abstract excerpt

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...

Topics

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• Color Vision Defects
• Cyclic Nucleotide-Gated Cation Channels
• Multimodal Imaging
• Mutation
• Ophthalmoscopy
• Retinal Cone Photoreceptor Cells
• Tomography, Optical Coherence
• Visual Cortex

Identifiers and source

Literature Corpus work

fe10fe86-7a1d-5c2a-9558-69ca7f7c9462

DOI

10.1101/2021.07.19.21260427