Figure 1 of Akhtar, Mol Vis 2025; 31:206-219.


Figure 1. Pedigrees of families with identified novel homozygous variant in CNG channel genes. A. Pedigree of family RD004 with a missense variant c.800G>T in the CNGA3 gene segregating with maculopathy/complete achromatopsia (ACHM)/IRD. B. Pedigree of family RD021 in which a novel homozygous pathogenic variant (i.e., c.1153T>C) was identified in the CNGB3 gene segregating with cone-rod dystrophy (CRD)/IRD. C. Pedigree of family RD053 with identified novel homozygous pathogenic variant (i.e., c.1633A>T) in the CNGA1 gene segregating with RP/IRD. Empty squares and circles 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.