Thus, the present Hi-C studies will not only aid in interpretation of GWAS studies of cataract genes [80] and of the WAGR syndrome [74, 75] but also aid studies of the microphthalmia-anophthalmia-coloboma (MAC) syndrome caused by mutations in genes with multiple tissue-specific distal enhancers such as PAX6, SOX2, ATOH7, OTX2, VSX2, FOXE3, BMP4, MAB21L1 and other loci [129–131] due to high evolutionary conservation of transcriptional control of these genes between human and mouse. This evidence concerns the gene SOX2 and WAGR syndrome.