In our study, FOXC1 variants, gross deletions spanning FOXC1, and PITX2 variants in total were detected in 63.6% (35/55) of patients with ARS; FOXC1 variants were detected in 34.5% (19/55) of probands, gross deletions of 6p25 were detected in 3.6% (2/55) of probands and PITX2 variants were detected in 25.5% (14/55) of probands. This evidence concerns the gene PITX2 and Axenfeld-Rieger syndrome.