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.