More recently, application of NGS to a group of 14 Mexican patients (7 familial and 7 sporadic cases) with congenital ocular malformations allowed the recognition of causal variants in well-known microphthalmia/anophthalmia genes (OTX2, VSX2, MFRP, VSX1) or in genes associated with syndromes that include ocular defects (CHD7, COL4A1). Here, OTX2 is linked to microphthalmia.