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Monogenic Retinal Diseases Associated With Genes Encoding Phototransduction Proteins: A Review

27 Feb 2025

Abstract excerpt

Phototransduction, the process by which captured photons elicit electrical changes in retinal rod and cone cells, represents the first neuronal step in vision and involves interactions between several highly specialised proteins. Pathogenic variants in genes encoding many of these proteins can give rise to significant vision impairment, accounting for a substantial portion of inherited retinal disease. Such genes...

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PMID: 40013354
DOI: 10.1111/ceo.14511

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