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

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 sub...

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Autores principales: Guo, Hui, Wu, Xinyi, Cai, Keli, Qiao, Zhi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4298062/
https://www.ncbi.nlm.nih.gov/pubmed/25571963
http://dx.doi.org/10.1186/1471-2415-15-3
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author Guo, Hui
Wu, Xinyi
Cai, Keli
Qiao, Zhi
author_facet Guo, Hui
Wu, Xinyi
Cai, Keli
Qiao, Zhi
author_sort Guo, Hui
collection PubMed
description 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 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. CONCLUSIONS: Weill-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.
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spelling pubmed-42980622015-01-20 Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review Guo, Hui Wu, Xinyi Cai, Keli Qiao, Zhi BMC Ophthalmol Case Report 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 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. CONCLUSIONS: Weill-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. BioMed Central 2015-01-09 /pmc/articles/PMC4298062/ /pubmed/25571963 http://dx.doi.org/10.1186/1471-2415-15-3 Text en © 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.
spellingShingle Case Report
Guo, Hui
Wu, Xinyi
Cai, Keli
Qiao, Zhi
Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review
title Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review
title_full Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review
title_fullStr Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review
title_full_unstemmed Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review
title_short Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review
title_sort weill-marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4298062/
https://www.ncbi.nlm.nih.gov/pubmed/25571963
http://dx.doi.org/10.1186/1471-2415-15-3
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