Figure 1 of Piñeiro-Gallego, Mol Vis 2011; 17:1607-1617.

Figure 1. Cosegregation analysis of the mutations. A: Pedigree of the Spanish family and segregation analysis of the p.Arg130Ser mutation of BEST1. The siblings were homozygous for p.Arg130Ser while the parents demonstrate heterozygosity for the mutation. Double lines indicate first degree cousins and symbols with a dot inside indicate carry individuals for the mutation. B: Pedigree of the Danish family with BEST1 mutations, modified from Schatz et al. [12]. In the present study, four additional family members were examined, marked by an asterisk. M/+ denotes heterozygosity for mutations in BEST1, whereas M/M denotes homozygosity.