The involvement of Pax2 in an Nr2f1-regulated network is particularly important, as human PAX2 mutations lead to coloboma-like OD malformations in the context of syndromic conditions [81,88,89], consistent with a key role of the Nr2f1-Pax2-Pax6 genetic network for the correct establishment of the OD region. The gene discussed is PAX2; the disease is osteochondritis dissecans.