Up to 30% of patients with aniridia carry chromosomal rearrangements at 11p13, with a high degree of breakpoint complexity [5, 6], including whole-gene deletions, microdeletions affecting only 3 ́ regulatory enhancers [5, 7–12] or contiguous gene deletions of PAX6 and other neighboring genes, mainly WT1 which is associated to WAGR syndrome [1, 13]. Here, PAX6 is linked to WAGR syndrome.