Figure 1. Pedigrees and genotyping results of Pakistani achromatopsia (ACHM) families RP26 and RP44. A: Pedigree with marker haplotypes for cyclic nucleotide-gated channel alpha-3 (CNGA3) at 2q11.2 for family RP26. White circles represent healthy females, filled circles affected females, white squares healthy males, and filled squares affected males. Deceased individuals are shown with a slanting line across the symbol. Haplotypes were constructed for a 9.1-Mb interval on chromosome 2q11.2, encompassing the CNGA3 gene (indicated with an arrowhead). B: Family RP44 and segregation of the c.1825delG mutation (M) in CNGB3 (+ represents the wild type alleles).