In this study we also identified two novel mutations in the FOXC1 gene in two families with ARS: a heterozygous missense mutation (c.454T>C; p.Trp152Arg), and a homozygous in-frame deletion (c.92_100del; p.Ala31_Ala33del). Here, FOXC1 is linked to Axenfeld-Rieger syndrome.