Rachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, Andrea L Vincent, Minal Patil, Lorenzo Bianco, Maurizio Battaglia Parodi, Lucia Ziccardi, Carmen Dell'Aquila, Lucilla Barbano, Wei Chao Tang, Choi Mun Chan, Camiel J F Boon, Jonathan Hensman, Ta-Ching Chen, Chien-Yu Lin, Pei-Lung Chen, Ajoy Vincent, Anupreet Tumber, Elise Heon, John R Grigg, Robyn V Jamieson, Elisa E Cornish, Benjamin M Nash, Jeremy Chou, Tina M Lamey, Samuel McLenachan, Danial Roshandel, Kaoru Fujinami, Enid Chelva, Terri L McLaren, Fred K Chen
چکیده
The purpose of this study was to characterize the clinical features, electrophysiology, and variant spectrum in ABCA4- and PRPH2-retinopathies and to identify novel electrodiagnostic biomarkers to differentiate between these two genotypes. We conducted an international multicenter case-control…
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DOI: 10.1167/iovs.67.4.29