Subsequent interrogation of WGS data from 599 unrelated individuals with inherited retinal disease revealed a large homozygous genomic rearrangement encompassing the first exon of REEP6 in an RP-affected individual of Turkish descent (individual C-II:1, GC20453) in the absence of plausible causative mutations in any gene known to be associated with retinal disease or other candidate genes. Here, REEP6 is linked to Abnormal retinal morphology.