To date, pathogenic sequence variants in human genes associated with both phenotypes include ATOH7, NDP, FZD4, and ZNF408; genes causative of PHPV include FOXC1, PITX2, COX15, and PAX6; and genes causative of EVR include LRP5, TSPAN12, KIF11, RCBTB1, and CTNNB1 [70,71,72,73,74,75,76,77,78,79,80,81,82,83,84,85,86]. The gene discussed is TSPAN12; the disease is persistent hyperplastic primary vitreous.