Interruption of the visual cycle in a novel animal model induces progressive vision loss resembling Stargardts Disease

Abstract Mutations in the gene ABCA4 coding for photoreceptor-specific ATP-binding cassette subfamily A member 4, are responsible for Stargardts Disease type 1 (STGD1), the most common form of inherited macular degeneration. STGD1 typically declares early in life and leads to severe visual handicap....

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Autors principals:	Fabiana Sassone, Catherine Estay-Ahumada, Michel J. Roux, Dominique Ciocca, Paola Rossolillo, Marie-Christine Birling, Janet R. Sparrow, Diego Montenegro, David Hicks
Format:	Artigo
Idioma:	Inglês
Publicat:	Nature Portfolio 2024-12-01
Col·lecció:	Scientific Reports
Matèries:	Stargardt’s disease Retinal degeneration Animal model Gene editing Cone photoreceptors Electrophysiology
Accés en línia:	https://doi.org/10.1038/s41598-024-81869-y
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