Secondary Angle Closure Glaucoma in Weill–Marchesani Syndrome
We report a case of a 16-year-old girl presenting to our clinic with decreased visual acuity and increased intraocular pressure in both eyes. The ophthalmological examination revealed best-corrected visual acuity (BCVA) of 0.3 in the right eye (R.E.) and 0.4 in the left eye (L.E.) and intraocular pr...
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MDPI AG
2024-10-01
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| author | Valeria Coviltir Miruna Gabriela Burcel Maria Cristina Marinescu Bianca Maria Urse Ciprian Danielescu |
| author_facet | Valeria Coviltir Miruna Gabriela Burcel Maria Cristina Marinescu Bianca Maria Urse Ciprian Danielescu |
| author_sort | Valeria Coviltir |
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| description | We report a case of a 16-year-old girl presenting to our clinic with decreased visual acuity and increased intraocular pressure in both eyes. The ophthalmological examination revealed best-corrected visual acuity (BCVA) of 0.3 in the right eye (R.E.) and 0.4 in the left eye (L.E.) and intraocular pressure (IOP) of 46 mmHg in the R.E. and 42 mmHg in the L.E., with a 360° closed angle on gonioscopy, pupillary block due to bulging, a hyper-spherical lens and high corneal thickness, without ectopia lentis or cataract. The eyes responded poorly to pharmacological mydriasis; therefore, the lens equator could not be visualised. The patient had a history of pulmonary stenosis, short stature and no significant cognitive deficits. These elements point to the diagnosis of Weill–Marchesani syndrome, and the ophthalmological management was surgical, including lens extraction and the installation of a capsular tension ring, an intraocular lens and a Shunt ExPress implantation. Evolution was favourable, with improved BCVA of 0.7 in the R.E. and 0.63 in the L.E. and IOP of 14 mmHg in the R.E. and 13 mmHg in the L.E., without topical or systemic treatment at the 6-month follow-up. Weill–Marchesani syndrome has a complex presentation, with ophthalmological, musculoskeletal, cardiac and psychiatric manifestations. Usually, this leads to a need for a multidisciplinary approach. The ophthalmologic symptoms are often the cause of presentation to a specialist, and glaucoma is the most threatening of the ocular pathologies, with possible evolution into irreversible blindness; therefore, prompt surgery and careful follow-up become key components of the treatment plan. As a take-home message, we encourage a high degree of suspicion of Weill–Marchesani syndrome in such cases. |
| format | Article |
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| institution | OA Journals |
| issn | 2075-4418 |
| language | English |
| publishDate | 2024-10-01 |
| publisher | MDPI AG |
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| series | Diagnostics |
| spelling | doaj-art-24798ece40db4955a6242554b7627b7f2025-08-20T02:11:05ZengMDPI AGDiagnostics2075-44182024-10-011420230310.3390/diagnostics14202303Secondary Angle Closure Glaucoma in Weill–Marchesani SyndromeValeria Coviltir0Miruna Gabriela Burcel1Maria Cristina Marinescu2Bianca Maria Urse3Ciprian Danielescu4Ophthalmology Discipline, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, RomaniaBrasov County Emergency Clinical Hospital, 500326 Brașov, RomaniaPhysiology III Discipline, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, RomaniaClinical Hospital for Ophthalmological Emergencies, 010464 Bucharest, RomaniaOphthalmology Discipline, Surgery II Department, Grigore T. Popa University of Medicine and Pharmacy, 700115 Iași, RomaniaWe report a case of a 16-year-old girl presenting to our clinic with decreased visual acuity and increased intraocular pressure in both eyes. The ophthalmological examination revealed best-corrected visual acuity (BCVA) of 0.3 in the right eye (R.E.) and 0.4 in the left eye (L.E.) and intraocular pressure (IOP) of 46 mmHg in the R.E. and 42 mmHg in the L.E., with a 360° closed angle on gonioscopy, pupillary block due to bulging, a hyper-spherical lens and high corneal thickness, without ectopia lentis or cataract. The eyes responded poorly to pharmacological mydriasis; therefore, the lens equator could not be visualised. The patient had a history of pulmonary stenosis, short stature and no significant cognitive deficits. These elements point to the diagnosis of Weill–Marchesani syndrome, and the ophthalmological management was surgical, including lens extraction and the installation of a capsular tension ring, an intraocular lens and a Shunt ExPress implantation. Evolution was favourable, with improved BCVA of 0.7 in the R.E. and 0.63 in the L.E. and IOP of 14 mmHg in the R.E. and 13 mmHg in the L.E., without topical or systemic treatment at the 6-month follow-up. Weill–Marchesani syndrome has a complex presentation, with ophthalmological, musculoskeletal, cardiac and psychiatric manifestations. Usually, this leads to a need for a multidisciplinary approach. The ophthalmologic symptoms are often the cause of presentation to a specialist, and glaucoma is the most threatening of the ocular pathologies, with possible evolution into irreversible blindness; therefore, prompt surgery and careful follow-up become key components of the treatment plan. As a take-home message, we encourage a high degree of suspicion of Weill–Marchesani syndrome in such cases.https://www.mdpi.com/2075-4418/14/20/2303Weill–Marchesani syndromemicrospherophakiaglaucoma |
| spellingShingle | Valeria Coviltir Miruna Gabriela Burcel Maria Cristina Marinescu Bianca Maria Urse Ciprian Danielescu Secondary Angle Closure Glaucoma in Weill–Marchesani Syndrome Diagnostics Weill–Marchesani syndrome microspherophakia glaucoma |
| title | Secondary Angle Closure Glaucoma in Weill–Marchesani Syndrome |
| title_full | Secondary Angle Closure Glaucoma in Weill–Marchesani Syndrome |
| title_fullStr | Secondary Angle Closure Glaucoma in Weill–Marchesani Syndrome |
| title_full_unstemmed | Secondary Angle Closure Glaucoma in Weill–Marchesani Syndrome |
| title_short | Secondary Angle Closure Glaucoma in Weill–Marchesani Syndrome |
| title_sort | secondary angle closure glaucoma in weill marchesani syndrome |
| topic | Weill–Marchesani syndrome microspherophakia glaucoma |
| url | https://www.mdpi.com/2075-4418/14/20/2303 |
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