Figure 1. Pedigrees and sequence chromatograms of six families with novel mutations in RPE65. Pedigrees and sequence chromatograms of RPE65-related families. Pedigrees of six families show their potential inheritance model. Empty symbols: healthy controls, filled symbols: affected patients. Individuals genotyped with available DNA are marked with asterisks. Probands are pointed out by arrows, squares indicate males, and circles indicate females. A reported heterozygous nonsense mutation, c.6351G>A (p.Trp2117X), in GPR179 was identified in Family 20289.