Figure 1 of Garnai, Mol Vis 2014; 20:1579-1593.


Figure 1. Family 581 pedigree. The filled symbols indicate the individuals affected with congenital cataracts; the half-filled symbols indicate the individuals affected with senile cataracts. The circles indicate females and the squares indicate males. The numbers inside of the diamonds indicate the number of children in that sibship. The individuals genotyped for this study are marked with an asterisk. For simulations and analyses, we only considered the genotyped individuals and one untyped founder (individual V:3) who was unavailable for genotyping. While it is reasonable to presume that the older members of the pedigree have passed away, we do not have clear information regarding which members of the earlier generations are still alive; therefore, the symbols have not been modified to indicate deceased status. The consanguinity indicated by these earlier generations has been included in the figure to help indicate where the concept of autosomal recessive inheritance originated.