Figure 2. Pedigree of family RD008. A. Pedigree of family RD008 shows the segregation of the novel ABCA4 variant, c.2790C>A leading to p.(Cys930*), in an autosomal recessive manner. B. The sequence chromatograms highlight carrier status and a homozygous mutant allele on the right and left sides, respectively. 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. The circle with a vertical line in the center shows the presymptomatic female with a homozygous mutant allele who may manifest disease later.