Description
Invited talk for a colloquium seriesAbstract: Congenital achromatopsia is an inherited visual condition that renders retinal cone photoreceptors non-functional from birth. Since cones dominate the central retina and are responsible for signalling color, affected individuals lack inputs to central foveal representations in visual cortex, and chromatic signals to the brain are absent. Although recent clinical trials using gene replacement therapy show promise in restoring cone function in the eye, success may depend on maintaining normal structure and function in downstream visual pathways. In this talk, I will summarise several studies in which we assessed structural and functional differences along the visual pathways beyond the eyes in individuals with achromatopsia.
Period | 24 Apr 2025 |
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Held at | Smith-Kettlewell Eye Research Institute, United States |
Degree of Recognition | International |
Keywords
- Achromatopsia
- Congenital vision deficits
- Cone photoreceptors
- Visual brain
Related content
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Projects
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NextGenVis: Training the Next Generation of European Visual Neuroscientists for the benefit of innovation in health care and high-tech industry
Project: Research project (funded) › Research
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Publications
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Structural changes to primary visual cortex in the congenital absence of cone input in achromatopsia
Research output: Contribution to journal › Article › peer-review
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Invited Session I: Focusing on the Human Fovea: Plasticity and stability in human foveal pathways
Research output: Contribution to journal › Meeting abstract › peer-review
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Reorganization of human cortical maps caused by inherited photoreceptor abnormalities
Research output: Contribution to journal › Article › peer-review
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Structural differences across multiple visual cortical regions in the absence of cone function in congenital achromatopsia
Research output: Contribution to journal › Article › peer-review
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Achromatopsia - limits to visual cortex plasticity in the absence of functional cones
Research output: Contribution to journal › Article › peer-review
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Abnormal retinotopic representations in human visual cortex revealed by fMRI
Research output: Contribution to journal › Article › peer-review