To date, there have been 62 CYP1B1 variants associated with anterior segment dysgeneses, including the following: c.1064_1076del p.(Arg355Hisfs*69), c.1103G>A p.(Arg368His) and c.1169G>A p.(Arg390His) associated with Axenfeld–Rieger syndrome and Peters anomaly [25,28,29,31]; c.171G>A p.(Trp57*) and c.868dupC p.(Arg290Profs*37) associated with Peters anomaly and other corneal dystrophies [25,31,33,70]; and c.434_443del p.(Arg145Profs*4), c.756C>A p.(Asn252Lys) and c.1453T>C p.(Ser485Phe) associated with aniridia [30,71]. Here, CYP1B1 is linked to isolated aniridia.