This is best exemplified by point mutations in the human PAX6 gene leading to aniridia (Lee et al., 2008), while modulation of mouse Pax6 levels reduces cell proliferation and leads to CB and iris hypoplasia (Davis et al., 2009; Davis-Silberman et al., 2005; Lee et al., 2008; Marquardt et al., 2001). Here, PAX6 is linked to isolated aniridia.