Weill-Marchesani syndrome in three generations

Background Weill-Marchesani syndrome is a rare systemic connective tissue disorder consisting of brachymorphy, brachydactyly, ectopia lentis, spherophakia and glaucoma. Methods We report 6 patients with Weill-Marchesani syndrome (with or without ocular involvement) in three generations, identified by screening 26 members of two families. This is the largest family in the literature showing an autosomal dominant pattern of inheritance. Results Presenile vitreous liquefaction was present in all the younger cases. Weill-Marchesani syndrome was full-blown in two cases in the third generation, in which asymmetrical axial length and glaucomatous damage were present. To our knowledge this is the first report regarding asymmetrical axial length and glaucomatous damage, and presenile vitreous liquefaction in Weill-Marchesani syndrome with or without ocular involvement. Conclusions The longer axial length might be the precursor of impending severe glaucomatous damage. Presenile vitreous liquefaction in subtle young cases should alert the physician to the diagnosis of Weill-Marchesani syndrome on screening of the family members.