Up to now, in humans mutated PITX2 has been linked to type 1 ARS [66–68], type 2 iridogoniodysgenesis [91], Peters’ anomaly [92], ring dermoid of cornea [93], various congenital heart diseases [16,82–84], and atrial fibrillation [94–97]. Here, PITX2 is linked to anterior segment dysgenesis 4.