Figure 1. Pedigree, genotyping haplotypes on 17p13.1, and GUCY2D mutation. Pedigree and haplotypes are shown at the top. Filled squares (male) or circles (female) represent individuals affected
with cone dystrophy. Bars filled with black indicate a disease-associated allele. The sequence chromatograph of GUCY2D is shown at bottom, in which the double peaks (arrow indicated) demonstrated the heterozygous recurrent mutation in GUCY2D.