{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:30:45Z","timestamp":1760146245395,"version":"build-2065373602"},"reference-count":12,"publisher":"MDPI AG","issue":"20","license":[{"start":{"date-parts":[[2024,10,16]],"date-time":"2024-10-16T00:00:00Z","timestamp":1729036800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>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\u00b0 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\u2013Marchesani 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\u2013Marchesani 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\u2013Marchesani syndrome in such cases.<\/jats:p>","DOI":"10.3390\/diagnostics14202303","type":"journal-article","created":{"date-parts":[[2024,10,17]],"date-time":"2024-10-17T03:49:34Z","timestamp":1729136974000},"page":"2303","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Secondary Angle Closure Glaucoma in Weill\u2013Marchesani Syndrome"],"prefix":"10.3390","volume":"14","author":[{"given":"Valeria","family":"Coviltir","sequence":"first","affiliation":[{"name":"Ophthalmology Discipline, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania"},{"name":"Clinical Hospital for Ophthalmological Emergencies, 010464 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9701-4104","authenticated-orcid":false,"given":"Miruna Gabriela","family":"Burcel","sequence":"additional","affiliation":[{"name":"Brasov County Emergency Clinical Hospital, 500326 Bra\u0219ov, Romania"},{"name":"Faculty of Medicine, Transilvania University of Bra\u015fov, 500036 Bra\u015fov, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8242-8809","authenticated-orcid":false,"given":"Maria Cristina","family":"Marinescu","sequence":"additional","affiliation":[{"name":"Physiology III Discipline, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-9806-4588","authenticated-orcid":false,"given":"Bianca Maria","family":"Urse","sequence":"additional","affiliation":[{"name":"Clinical Hospital for Ophthalmological Emergencies, 010464 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1639-2921","authenticated-orcid":false,"given":"Ciprian","family":"Danielescu","sequence":"additional","affiliation":[{"name":"Ophthalmology Discipline, Surgery II Department, Grigore T. Popa University of Medicine and Pharmacy, 700115 Ia\u0219i, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,10,16]]},"reference":[{"key":"ref_1","unstructured":"Adam, M.P., Feldman, J., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Gripp, K.W., and Amemiya, A. (2020). Weill\u2013Marchesani Syndrome. Gene Reviews, University of Washington, Seattle."},{"key":"ref_2","first-page":"e930824","article-title":"Weill\u2013Marchesani Syndrome, a Rare Presentation of Severe Short Stature with Review of the Literature","volume":"22","year":"2021","journal-title":"Am. J. Case Rep."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.1097\/CM9.0000000000001406","article-title":"Weill\u2013Marchesani-like Syndrome Caused by an FBN1 Mutation with Low-Penetrance","volume":"134","author":"Yang","year":"2021","journal-title":"Chin. Med. 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Glaucoma"}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/14\/20\/2303\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T16:14:43Z","timestamp":1760112883000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/14\/20\/2303"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,16]]},"references-count":12,"journal-issue":{"issue":"20","published-online":{"date-parts":[[2024,10]]}},"alternative-id":["diagnostics14202303"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics14202303","relation":{},"ISSN":["2075-4418"],"issn-type":[{"type":"electronic","value":"2075-4418"}],"subject":[],"published":{"date-parts":[[2024,10,16]]}}}