Weill-Marchesani syndrome associated with retinitis pigmentosa

Jethani, Jitendra; Mishra, Anurag; Shetty, Shashikant; Vijayalakshmi, P.
March 2007
Indian Journal of Ophthalmology;Mar2007, Vol. 55 Issue 2, p142
Academic Journal
No abstract available.


Related Articles

  • Weill--Marchesani Syndrome.  // Journal of Pediatric Ophthalmology & Strabismus;May/Jun2006, Vol. 43 Issue 3, p192 

    Presents photographs of Weill-Marchesani syndrome in children.

  • Autosomal dominant Weill-Marchesani and Marfan syndromes are two sides of the same coin.  // British Journal of Ophthalmology;Jul2003, Vol. 87 Issue 7, p846 

    Studies the genetic aspects of autosomal dominant Weill-Marchesani syndrome and Marfan syndrome. Mutation in fibrilin-1 gene; Chromosomes linked to the diseases; Optical features of the Weill-Marchesani syndrome.

  • Anaesthetic management of a patient with Weill-Marchesani syndrome complicated with mitral regurgitation. Bhakta, Pradipta; Mady, Hatem Abdulghani; Burad, Jyoti; Tawfic, Qutaiba Amir // Indian Journal of Anaesthesia;Jul/Aug2011, Vol. 55 Issue 4, p428 

    A letter to the editor is presented concerning the anaesthetic management of a patient with Weill-Marchesani syndrome with mitral regurgitation complication.

  • Corneal Microstructural Analysis in Weill-Marchesani Syndrome by In Vivo Confocal Microscopy. Roszkowska, Anna M.; Aragona, Pasquale // Open Ophthalmology Journal;2011, p48 

    A thick cornea is a constant ocular finding in the mesodermal dysmorphodystrophy (Weill-Marchesani Syndrome). In this study we investigated with confocal microscopy, the corneal structure in vivo in the patient affected by Weill-Marchesani Syndrome (WMS) in an attempt to explain the thickness...

  • Surgical Treatment of Advanced Chronic Angle Closure Glaucoma in Weill--Marchesani Syndrome. Harasymowycz, Paul; Wilson, Richard // Journal of Pediatric Ophthalmology & Strabismus;Sep/Oct2004, Vol. 41 Issue 5, p295 

    Purpose: To describe the surgical treatment of advanced chronic angle closure glaucoma in Weill--Marchesani syndrome. Patients and Methods: Two children with Weill--Marchesani syndrome (4 eyes) undergoing lensectomy, anterior vitrectomy, and sutured intraocular lens (IOL) and Molteno tube shunt...

  • Homatropine.  // Reactions Weekly;8/5/2006, Issue 1113, p12 

    The article discusses research being done on the side effects of the ophthalmic administration of homatropine used as treatment to improve vision in a boy with Weill-Marchesani syndrome. It references a study by A. Madugala et al published in the July 2006 issue of the "Journal of the American...

  • CASE REPORT OF TWO SISTERS SUFFERING FROM WEILLMARCHESANI SYNDROME WITH PULMONARY STENOSIS. Mandal, Sanjay K.; Mondal, Soumya S.; Mani, Siddhartha; Chatterjee, Sumanta; Chatterjee, Koushik; Bhattacharya, Raja; Pramanik, Apurba B. // Indian Journal of Medical Sciences;Mar2010, Vol. 64 Issue 3, p140 

    We report two sisters having a rare congenital anomaly-Weill-Marchesani syndrome having disproportionate short height, restriction of joint movements, brachydactyly, dislocation of lens, bilateral glaucomatous optic atrophy, and pulmonary stenosis.

  • Retinitis pigmentosa associated with ectopia lentis in a patient with Marfan syndrome. Jifeng Yu; Li Liang; Yuqin Wen; Yifei Huang // Indian Journal of Ophthalmology;Mar2013, Vol. 61 Issue 3, p133 

    A letter to the editor is presented in response to the article "Retinitis pigmentosa associated with ectopia lentis in a patient with Marfan syndrome."

  • Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome. Steinkellner, Hannes; Etzler, Julia; Gogoll, Laura; Neesen, Jürgen; Stifter, Eva; Brandau, Oliver; Laccone, Franco // European Journal of Human Genetics;Sep2015, Vol. 23 Issue 9, p1186 

    Weill-Marchesani syndrome is a rare disorder of the connective tissue. Functional variants in ADAMTS10 are associated with Weill-Marchesani syndrome-1. We identified a homozygous missense mutation, c.41T>A, of the ADAMTS10 gene in a 19-year-old female with typical symptoms of WMS1: proportionate...

  • Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review. Hui Guo; Xinyi Wu; Keli Cai; Zhi Qiao // BMC Ophthalmology;2015, Vol. 15 Issue 1, p21 

    Background To report the diagnostic features and management strategy of a rare case of Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction. Case presentation A patient presented with advanced glaucoma with an intraocular pressure of 49 mmHg in the left eye, and...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics