Fig. 1. (A) Pedigree of a Korean family with congenital aniridia. Congenital aniridia is inherited in an autosomal dominant manner. The filled symbols represent subjects with congenital aniridia and the open symbols represent normal subjects. The numbers under the symbols are the subject identification numbers. The proband is marked with an arrow. (B) A heterozygous c.365C>A mutation in exon 7 causing p.Ser122^* identified by direct sequencing analysis of the paired box gene-6 (PAX6). The patient inherited the mutation from her mother.