This is a lower but comparable proportion to the study by Haarman et al. in which pathogenic variants in genes associated with retinal dystrophies were found in 39% of genetically confirmed HM cases (FAM161A, GUCY2D, PDE6H, CACNA1F, NYX, RPGR and TRPM1) [10]. This evidence concerns the gene PDE6H and Retinal dystrophy.