C Evereklioglu1, I F Hepsen, H Er. 1. Department of Ophthalmology, Turgut Ozal Medical Centre, Inönü University, Malatya, Turkey. evereklioglu@hotmail.com
Abstract
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.
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.
Authors: Jose Morales; Latifa Al-Sharif; Dania S Khalil; Jameela M A Shinwari; Prashant Bavi; Rahima A Al-Mahrouqi; Ali Al-Rajhi; Fowzan S Alkuraya; Brian F Meyer; Nada Al Tassan Journal: Am J Hum Genet Date: 2009-11 Impact factor: 11.025
Authors: Alana Cecchi; Naomi Ogawa; Hugo R Martinez; Alicia Carlson; Yuxin Fan; Daniel J Penny; Dong-chuan Guo; Steven Eisenberg; Hazim Safi; Anthony Estrera; Richard A Lewis; Deborah Meyers; Dianna M Milewicz Journal: Am J Med Genet A Date: 2013-07-29 Impact factor: 2.802