Figure 1. Pedigree of family RP186. A. Pedigree of family RP186 shows the segregation of the two heterozygous ABCA4 single nucleotide substitutions, c.6658C>T causing p.(Gln2220*) and a novel splice site change c.1099+5G>A in a compound heterozygous manner, in two affected and two unaffected individuals. B. The sequence chromatograms highlight the heterozygous mutant allele, c.6658C>T and c.1099+5G>A of ABCA4, on the left side. Empty squares and circles in the pedigree show the unaffected males and females, respectively. The filled shapes show the affected individuals. The symbol labeled with a red arrow in the pedigree highlights the proband.