 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. 