Mutations in hesx1 lead to anophthalmia, microphthalmia, septo-optic dysplasia (SOD) and pituitary defects in humans and mice (Dattani et al., 1998; Gaston-Massuet et al., 2008; Martinez-Barbera et al., 2000; Thomas et al., 2001). This evidence concerns the gene HESX1 and microphthalmia.