NR2F1 and Abnormal optic nerve morphology: Du et al. [5], summarized the role of COUP-TFs in the regulation of the developing eyes in embryo, and found that COUP-TFs regulated the development of embryo eyes via directly or indirectly modulating the eye morphogenesis-related transcriptional factors including Pax2/6, Otx2, Mitf, Vaxl/2 etc. Bosch et al. [6] found that six patients with CVI and/or optic nerve abnormalities, have either deletions of NR2F1(COUP-TFI) or heterozygous missense mutations in NR2F1.