PAX6 and isolated aniridia: Aniridia (OMIM #106210) (now called PAX6-associated aniridia syndrome [1,2]) is a dominantly inherited congenital panocular disorder which is caused by either heterozygous intragenic mutations in the PAX6 gene (OMIM *607108) or heterozygous large chromosomal rearrangements of the 11p13 locus encompassing the PAX6 gene or its distant regulatory elements.