Avigail Beryozkin, Ifat Sher, Miriam Ehrenberg, Dinah Zur, Hadas Newman, Libe Gradstein, Francis Simaan, Ygal Rotenstreich, Nitza Goldenberg-Cohen, Irit Bahar, Anat Blumenfeld, Antonio Rivera, Boris Rosin, Iris Deitch-Harel, Ido Perlman, Hadas Mechoulam, Itay Chowers, Rina Leibu, Tamar Ben-Yosef, Eran Pras, Eyal Banin, Dror Sharon, Samer Khateb
PURPOSE: To review all reported disease-causing mutations in BEST1, perform genotype-phenotype correlation, and estimate disease prevalence in the Israeli population. METHODS: Medical records of patients diagnosed with Best disease and allied diseases from nine Israeli medical centers over the past 20 years were collected, as were clinical data including ocular findings, electrophysiology results, and retina imaging. Mutation detection involved mainly whole exome sequencing and candidate gene analysis...
February 1, 2024: Investigative Ophthalmology & Visual Science