This is highlighted by the human Branchio-Oculo-Facial Syndrome, which is associated with TFAP2A mutations and is characterized by craniofacial (cleft lip, cleft palate, ear malformations) and ocular anomalies (anophthalmia, microphthalmia, cataract, and coloboma) [89,90]. This evidence concerns the gene TFAP2A and coloboma.