PAX6 and WAGR syndrome: In 30% or even in higher proportion of aniridia patients (Wawrocka et al. 2013), the disease results from genomic rearrangements at the 11p13 region including PAX6 whole-gene deletions, microdeletions affecting only the 3′ regulatory enhancers (excluding the PAX6 gene) or contiguous genes deletions of the PAX6 and other neighboring genes, especially WT1 (WAGR syndrome) (Crolla and van Heyningen 2002; Robinson et al. 2008).