Figure 1. The pedigree and ocular symptoms of the family with ARS. A: Family members and their relationships are shown. The affected individuals are labeled with filled symbols. Circle, female; square, male; small filled circle, miscarriage. “+” represents the normal allele, and “-” represents the deletion allele. B: Iris dysplasia and multiple pupils are shown for affected individuals II:1 and IV:3. C: Specular microscopy examination of affected individual II:10 (upper panel) and an age-matched control (lower panel). Significantly reduced corneal endothelial cell density is shown in both eyes of II:10.