Literature DB >> 16494613

Weill-Marchesani syndrome and secondary glaucoma associated with ectopia lentis.

Byoung Sun Chu1.   

Abstract

Weill-Marchesani syndrome (WMS) is a rare systemic connective tissue disorder with the systemic features of short stature, short and stubby hands and feet and stiff joints, especially in the hands. Occasionally, it is associated with heart defects and mental retardation. The main ocular features of WMS are microspherophakia (small and spherical crystalline lens), ectopia lentis (a displaced or malpositioned lens), severe myopia and glaucoma. Rare findings include asymmetric axial lengths associated with presenile vitreous liquefaction. A 14-year-old patient with WMS, who developed a secondary glaucoma and suffered visual loss from the ocular features of WMS, is described. The clinical findings and its successful management are also reported.

Entities:  

Mesh:

Year:  2006        PMID: 16494613     DOI: 10.1111/j.1444-0938.2006.00014.x

Source DB:  PubMed          Journal:  Clin Exp Optom        ISSN: 0816-4622            Impact factor:   2.742


  7 in total

1.  Latent-transforming growth factor beta-binding protein-2 (LTBP-2) is required for longevity but not for development of zonular fibers.

Authors:  Y Shi; W Jones; W Beatty; Q Tan; R P Mecham; H Kumra; D P Reinhardt; M A Gibson; M A Reilly; J Rodriguez; S Bassnett
Journal:  Matrix Biol       Date:  2020-10-09       Impact factor: 11.583

2.  Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.

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

Review 3.  A review of the role of ultrasound biomicroscopy in glaucoma associated with rare diseases of the anterior segment.

Authors:  Giuseppe Mannino; Barmak Abdolrahimzadeh; Silvia Calafiore; Gianmario Anselmi; Cristina Mannino; Alessandro Lambiase
Journal:  Clin Ophthalmol       Date:  2016-07-29

4.  Ocular Manifestations of Acute Secondary Angle Closure Associated With Lens Subluxation.

Authors:  Qinghe Jing; Tianhui Chen; Zexu Chen; Lina Lan; Chen Zhao; Yongxiang Jiang
Journal:  Front Med (Lausanne)       Date:  2022-01-14

Review 5.  Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management.

Authors:  Solmaz Abdolrahimzadeh; Valeria Fameli; Roberto Mollo; Maria Teresa Contestabile; Andrea Perdicchi; Santi Maria Recupero
Journal:  Biomed Res Int       Date:  2015-09-16       Impact factor: 3.411

6.  Scleral-fixated intraocular lens implantation in microspherophakia.

Authors:  Sujata Subbiah; Philip A Thomas; C A Nelson Jesudasan
Journal:  Indian J Ophthalmol       Date:  2014-05       Impact factor: 1.848

7.  Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.

Authors:  Mohd Hussain Shah; Vishwanath Bhat; Jyoti S Shetty; Arun Kumar
Journal:  Mol Vis       Date:  2014-06-12       Impact factor: 2.367

  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.