IMPG1 and cone-rod dystrophy: Similarly, in probands BLM033 and BLM066 (Clinical data shown in Fig. 2G–J, Supplementary Figures 2 and 3), we identified pathogenic variants in two CRD-causing genes (C21ORF2, IMPG1), and this led to clinical re-diagnosis of CRD after reassessment of the probands’ clinical phenotypes.