Monika K Grudzinska Pechhacker, Samuel G Jacobson, Arlene V Drack, Matteo Di Scipio, Ine Strubbe, Wanda Pfeifer, Jacque L Duncan, Helene Dollfus, Nathalie Goetz, Jean Muller, Andrea L Vincent, Tomas S Aleman, Anupreet Tumber, Caroline Van Cauwenbergh, Elfride De Baere, Emma Bedoukian, Bart P Leroy, Jason T Maynes, Francis L Munier, Erika Tavares, Eman Saleh, Ajoy Vincent, Elise Heon
Purpose: The purpose of this study was to compare the natural history of visual function change in cohorts of patients affected with retinal degeneration due to biallelic variants in Bardet-Biedl syndrome genes: BBS1 and BBS10. Methods: Patients were recruited from nine academic centers from six countries (Belgium, Canada, France, New Zealand, Switzerland, and the United States). Inclusion criteria were: (1) female or male patients with a clinical diagnosis of retinal dystrophy, (2) biallelic disease-causing variants in BBS1 or BBS10, and (3) measures of visual function for at least one visit...
December 1, 2021: Investigative Ophthalmology & Visual Science