Fig. 2.

The number of detected pathogenic mutations for each disease phenotype. BBS Bardet–Biedl syndrome, Bietti Bietti crystalline dystrophy, CHM choroideraemia, CSNB congenital stationary night blindness, CORD cone and cone-rod dystrophy, Joubert Joubert syndrome, LCA Leber congenital amaurosis, MD other macular dystrophy, NCMD North Carolina macular dystrophy, RP retinitis pigmentosa, STGD Stargardt macular dystrophy, Usher Usher syndrome, VMD vitelliform macular dystrophy