Mutations in FBN1 underlie Marfan syndrome [MFS; Mendelian Inheritance in Man (MIM): 154700] and the autosomal dominant form of Weill-Marchesani syndrome (AD WMS; MIM: 608328) (Dietz et al., 1991; Comeglio et al., 2002), conditions that severely affect the eye. Here, FBN1 is linked to Marfan syndrome.