Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review

BMC Ophthalmology

Case Report

Hui Guo¹  Zhi Qiao¹  Xinyi Wu¹  Keli Cai¹ 

[1] Department of Ophthalmology, Qilu Hospital of Shandong University, Jinan, China;

关键词: Weill-Marchesani syndrome;    Microspherophakia;    Glaucoma;    Corneal endothelium dysfunction;   

DOI  :  10.1186/1471-2415-15-3

 received in 2014-09-02, accepted in 2015-01-03,  发布年份 2015

来源: Springer

【 摘 要 】

BackgroundTo report the diagnostic features and management strategy of a rare case of Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction.Case presentationA patient presented with advanced glaucoma with an intraocular pressure of 49 mmHg in the left eye, and subsequently received trabeculectomy to control the intraocular pressure. Surprisingly, slit lamp examination through the dilated pupil revealed a dislocated microspherophakic lens almost touching the corneal endothelium. A microspherophakic lens was confirmed by anterior segment optical coherence tomography. Weill-Marchesani syndrome was then diagnosed by ocular examinations, and was accompanied by systemic abnormalities, including brachymorphia and brachydactyly. Corneal endothelial microscopy showed severe corneal endothelial dysfunction, and lens extraction and intraocular lens implantation were subsequently performed to prevent further endothelial damage. At the 1-year follow-up visit, the patient had well-controlled intraocular pressure, transparent cornea, and normal anterior chamber depth, while the intraocular lens remained correctly in place.ConclusionsWeill-Marchesani syndrome could be diagnosed by microspherophakia, high myopia, secondary glaucoma, and systemic abnormalities such as brachymorphia and brachydactyly. Removal of the microspherophakia is recommended to control intraocular pressure and improve vision. Advanced glaucoma in Weill-Marchesani syndrome should be treated with combined glaucoma surgery and lens extraction.

【 授权许可】

Unknown   
© Guo et al.; licensee BioMed Central. 2015. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.