The PAX6 gene, considered a causative gene for congenital aniridia since 1991 [6], is located at chromosome 11p13 in the assembly GRCh37/hg19, consists of 14 exons and 13 introns, and encodes 3 isoforms of transcripts determined by alternative splicing, including 1 isoform with an alternative exon between exon 5 and 6, called exon 5a [14]. Here, PAX6 is linked to aniridia.