Figure 1 of Ahuja, Mol Vis 2008; 14:1293-1297.


Figure 1. Pedigrees of family A and family B with autosomal recessive achromatopsia originating from the United Arab Emirates and carrying mutations in the CNGA3 gene. Family A has two branches carrying either the two heterozygous mutations R283W and G397V or being homozygous for the mutation G397V due to consanguinity of the parents. Patients of family B are both homozygous for the mutation R283W in the CNGA3 gene. Squares indicate males and circles females. Open symbols indicate healthy individuals, while shadings designate the affected patients. Arrows point to family members for whom DNA samples were available for genetic analysis. CNGA3 genotypes are given below each analyzed individual.