Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Scientific Reports
Karali, Marianthi M; Testa, Francesco F; Di Iorio, Valentina V; Torella, Annalaura A; Zeuli, Roberta R; Scarpato, Margherita M; Romano, Francesca F; Onore, Maria Elena ME; Pizzo, Mariateresa M; Melillo, Paolo P; Brunetti-Pierri, Raffaella R; Passerini, Ilaria I; Pelo, Elisabetta E; Cremers, Frans P M FPM; Esposito, Gabriella G; Nigro, Vincenzo V; Simonelli, Francesca F; Banfi, Sandro S
Publication Date: 2022-12-02
Variant appearance in text: ABCA4: 1852G>A; Gly618Arg
Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy.
Investigative Ophthalmology & Visual Science
Testa, Francesco F; Rossi, Settimio S; Sodi, Andrea A; Passerini, Ilaria I; Di Iorio, Valentina V; Della Corte, Michele M; Banfi, Sandro S; Surace, Enrico Maria EM; Menchini, Ugo U; Auricchio, Alberto A; Simonelli, Francesca F