Introduction: To evaluate the current management of RPE65-biallelic mutation-associated inherited retinal degeneration (RPE65-IRD) in Europe since market authorization of Voretigene Neparvovec (VN, Lu
De novo mutations observed in individual IV.1. Sequenced reads were aligned to the hg19 reference human genome downloaded from UCSC and aligned using Burrows–Wheeler alignment (BWA-MEM). De novo</