Figure 1. Pedigrees of families with TOPORS mutations. A: This family has the p.Arg857GlyfsX9 (c.2569delA) mutation. B: RFS169. This family has the p.Glu808X (c.2422C>T) mutation. Circles indicate females; squares indicate males. Black filled symbols are affected individuals, open symbols are unaffected individuals, and the “Q” indicated an individual in New York who reports being asymptomatic. “E”s indicate individuals who had eye examination at either the Retina Foundation of the Southwest or the Jules Stein Eye Institute. “M”s indicate individuals for whom ophthalmic medical records were reviewed. Plus signs show individuals whose DNA tested positive for the family's mutation; minus signs are individuals whose DNA tested negative for the family's mutations.