The application of NGS techniques has facilitated the detection of pathogenic mutations in candidate genes such as SOX2, CHX10, GDF6, RAX, OTX2, and FOXE3, among others, which are associated with a broad spectrum of eye abnormalities, such as anophthalmia, microphthalmia, coloboma, and other congenital disabilities. Here, OTX2 is linked to microphthalmia.