To date, at least 30 different missense, nonsense, and frameshift mutations have been identified, affecting the forkhead domain of FOXC1 in individuals presenting with the spectrum of ocular defects associated with Axenfeld-Rieger syndrome and anomaly (anteriorly-displaced Schwalbe’s line, iris adhesions, iridocorneal angle dysgenesis, and corectopia [30-44]). Here, FOXC1 is linked to Axenfeld-Rieger syndrome.