According to our findings and those reported using CRISPR models, somatic PAX6 mosaicism might explain some of the approximately 10% of patients with aniridia who apparently lack PAX6 mutations (Ansari et al., 2016; Bobilev et al., 2016; Vasilyeva et al., 2017) or even mild cases of ODAs (Hanson et al., 1999). Here, PAX6 is linked to isolated aniridia.