Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder, characterized by
anterior segment abnormalities and systemic abnormalities. To date,two major genes, forkhead
box C1 (FOXC1) on chromosome 6p25 and pituitary homeobox 2 (PITX2) on chromosome 4q25, have
been demonstrated to cause ARS. In this study, we performed complete ophthalmologic
examinations and analysis of FOXC1 and PITX2 of a Chinese family with ARS.