Michalis Georgiou, Kaoru Fujinami, Yu Fujinami-Yokokawa, Fadi Nasser, Michael J Gale, Carmen Ayuso, Omar A Mahroo, Nikolas Pontikos, Zaina Bouzia, Belen Jimenez-Rolando, Ester Carreño, Rigmor C Baraas, Josephine P Holtan, Ragnheidur Bragadottir, Alberta A H J Thiadens, Monika G Pechhacker, Ajoy Vincent, Elise Héon, Alaa Altalbishi, Ramiro S Maldonado, John Neidhardt, Bohdan Kousal, Petra Lišková, Mette Bertelsen, Lars M Larsen, Mark E Pennesi, Susanne Kohl, Bernd Wissinger, Eberhart Zrenner, Andrew R Webster, Michel Michaelides
چکیده
To describe the natural history of autosomal recessive IMPG2-associated retinal dystrophy. Multicenter international retrospective case series. Review of clinical notes, retinal imaging including fundus autofluorescence (FAF) and optical coherence tomography (OCT), and molecular genetic testing, of…
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