Fiche publication
Date publication
mai 2026
Journal
Investigative ophthalmology & visual science
Auteurs
Membres identifiés du Cancéropôle Est :
Mme ROSSOLILLO Paola
,
Dr CIOCCA Dominique
Tous les auteurs :
Estay-Ahumada CE, Roux M, Ciocca D, El-Kholti N, Birling MC, Rossolillo P, Felder-Schmittbuhl MP, Hicks D
Lien Pubmed
Résumé
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. We recently showed that injection of viral vectors expressing CRISPR/Cas9 tools directed against Abca4 into young Sand Rat (Psammomys obesus) eyes led to extensive structural and functional retinal degeneration resembling STGD1. Here we provide further evidence that this is highly likely due to specific knockdown of Abca4 and not off-target errors.
Mots clés
Animals, Gerbillinae, ATP-Binding Cassette Transporters, genetics, Electroretinography, Stargardt Disease, genetics, Disease Models, Animal, Retinal Cone Photoreceptor Cells, metabolism, Tomography, Optical Coherence, Macular Degeneration, genetics, Retinal Degeneration, genetics, CRISPR-Cas Systems, Gene Knockdown Techniques, Genetic Vectors, Dependovirus, genetics
Référence
Invest Ophthalmol Vis Sci. 2026 05 1;67(5):47
