{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T12:30:27Z","timestamp":1791203427655,"version":"4.2.0"},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,3,6]],"date-time":"2014-03-06T00:00:00Z","timestamp":1394064000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,3]]},"abstract":"Abstract<\/jats:title>Inherited ectopia lentis (EL<\/jats:styled-content>) is most commonly caused by Marfan syndrome (MFS<\/jats:styled-content>), a multisystemic disorder caused by mutations in FBN1<\/jats:styled-content><\/jats:italic>. Historically the diagnosis for patients with EL<\/jats:styled-content> who have no systemic features of MFS<\/jats:styled-content> is isolated EL (IEL<\/jats:styled-content>). However, the Ghent nosology for MFS<\/jats:styled-content> was updated in 2010 and made some important alterations. In particular, patients with EL<\/jats:styled-content> and a FBN1<\/jats:styled-content><\/jats:italic> mutation are now categorically diagnosed with MFS<\/jats:styled-content>, if their mutation has previously been described with aortic dilation\/dissection. This carries significant systemic implications, as many patients previously diagnosed with IEL<\/jats:styled-content> are now reclassified. We provide a review of all published cases of IEL<\/jats:styled-content> caused by FBN1<\/jats:styled-content><\/jats:italic> mutations over the last 20\u2009years to assess what impact the new Ghent nosology has on these. Indeed, 57\/123 probands (46.3%) are now classified as MFS<\/jats:styled-content> according to the revised Ghent nosology and 37\/96 mutations (38.5%) reported to cause isolated EL<\/jats:styled-content> have also been found in patients with aortic dilation\/dissection. These findings suggest that EL<\/jats:styled-content> caused by mutations in FBN1<\/jats:styled-content><\/jats:italic> is actually part of a spectrum of fibrillinopathies with MFS<\/jats:styled-content>, and the term \u2018IEL\u2019 should be avoided in such cases.<\/jats:p>","DOI":"10.1111\/cge.12358","type":"journal-article","created":{"date-parts":[[2014,2,7]],"date-time":"2014-02-07T14:42:35Z","timestamp":1391784155000},"page":"284-287","source":"Crossref","is-referenced-by-count":42,"title":["The revised ghent nosology; reclassifying isolated ectopia lentis"],"prefix":"10.1111","volume":"87","author":[{"given":"A.","family":"Chandra","sequence":"first","affiliation":[{"name":"Vitreoretinal Unit Moorfields Eye Hospital London UK"},{"name":"Inherited Eye Diseases UCL Institute of Ophthalmology London UK"},{"name":"Vitreoretinal unit, Royal Victoria Eye and Ear Hospital Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Patel","sequence":"additional","affiliation":[{"name":"Vitreoretinal Unit Moorfields Eye Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.A.","family":"Aragon\u2010Martin","sequence":"additional","affiliation":[{"name":"Cardiac and Vascular Sciences St Georges University of London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Pinard","sequence":"additional","affiliation":[{"name":"Aix Marseille Universit\u00e9 GMGF 13385, Marseille France"},{"name":"INSERM UMR_S 910 13385, Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Collod\u2010B\u00e9roud","sequence":"additional","affiliation":[{"name":"Aix Marseille Universit\u00e9 GMGF 13385, Marseille France"},{"name":"INSERM UMR_S 910 13385, Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Comeglio","sequence":"additional","affiliation":[{"name":"Cardiac and Vascular Sciences St Georges University of London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Boileau","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale Unit\u00e9 698 H\u00f4pital Bichat Paris France"},{"name":"Centre de R\u00e9f\u00e9rence pour les Syndromes de Marfan et Apparent\u00e9s Service de Cardiologie, H\u00f4pital Bichat, Assistance Publique\u00a0\u2013\u00a0H\u00f4pitaux de Paris Paris France"},{"name":"Service de Cardiologie, Hopital Bichat, Assistance Publique H\u00f4pitaux de Paris Paris France"},{"name":"Unit\u00e9 de Formation et de Recherche de M\u00e9decine Universit\u00e9 Paris Diderot Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Faivre","sequence":"additional","affiliation":[{"name":"Equipe GAD, EA 4271 Universit\u00e9 de Bourgogne Dijon France"},{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs H\u00f4pital d'Enfants Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Charteris","sequence":"additional","affiliation":[{"name":"Vitreoretinal Unit Moorfields Eye Hospital London UK"},{"name":"Inherited Eye Diseases UCL Institute of Ophthalmology London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.H.","family":"Child","sequence":"additional","affiliation":[{"name":"Cardiac and Vascular Sciences St Georges University of London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Arno","sequence":"additional","affiliation":[{"name":"Inherited Eye Diseases UCL Institute of Ophthalmology London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,3,6]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816810903567604"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290316"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.072785"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10249"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32809"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01703.x"},{"key":"e_1_2_6_9_1","first-page":"504","article-title":"Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis","volume":"18","author":"Li 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