PITX2 and Axenfeld-Rieger syndrome: The underlying genetic defects of ARS in 40% of patients is pathogenic variants in forkhead box C1 (FOXC1, MIM 601,090) or pituitary homeobox 2 (PITX2, MIM 601,542) [9, 10], which both have important roles in embryonic development and regulate downstream genes which are important for cell differentiation and migration via DNA binding [11].