SOX2 mutations are associated with isolated unilateral or bilateral AM, complex AM, and Syndromic Microphthalmia 3 (MCOPS3), where extraocular features include brain anomalies, neurocognitive delays, seizures, sensorineural hearing loss, oesophageal atresia, short stature, microcephaly and genital anomalies (Table 1) [8,12,89]. This evidence concerns the gene SOX2 and microphthalmia.