A recent study from Tarilonte et al. proved the existence of post-zygotic parental mosaicism in three unrelated Spanish families with variable aniridia or microphthalmia phenotypes caused by heterozygous nonsense (c.771G>A, p.Trp257* and c.120C>A, p.Cys40*) or missense (c.178T>C, p.Tyr60His) PAX6 mutations, respectively [110]. Here, PAX6 is linked to microphthalmia.