{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T22:09:01Z","timestamp":1792188541160,"version":"4.4.0"},"reference-count":25,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2020,3,6]],"date-time":"2020-03-06T00:00:00Z","timestamp":1583452800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Purpose: To describe a five-grade classification of ectopia lentis in Marfan syndrome (MFS) and to evaluate the positive predictive value of the early grades of ectopia lentis. Methods: We prospectively included MFS patients and their healthy relatives. The anterior segment examination was classified into grades 0 to 5, and we studied the sensitivity, specificity, and positive predictive value of ectopia lentis in this classification. Results: Seventy-four MFS patients and thirty-six healthy controls were examined. In the MFS group, grades 1, 2, 3, and 4 were present in 15, 24, 17, and 7 patients, respectively, whereas 11 patients in this group did not present ectopia lentis. In the control group, grades 0 and 1 were observed in 30 and 6 individuals, respectively. Sensitivity to ectopia lentis of at least grade 2 was 64.9%, with 100% specificity, whereas sensitivity to ectopia lentis of at least grade 1 was 85.1%, with 83.3% specificity. The positive predictive value of ectopia lentis that was greater than or equal to grade 2 was 100%, whereas that of ectopia lentis greater than or equal to grade 1 was 91.3%. Conclusions: High positive predictive values s were found to be associated with grades 2 and higher of the five-grade classification of ectopia lentis. This classification should help to harmonize clinical practices for this major feature of MFS.<\/jats:p>","DOI":"10.3390\/jcm9030721","type":"journal-article","created":{"date-parts":[[2020,3,9]],"date-time":"2020-03-09T05:37:34Z","timestamp":1583732254000},"page":"721","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Classifying Ectopia Lentis in Marfan Syndrome into Five Grades of Increasing Severity"],"prefix":"10.3390","volume":"9","author":[{"given":"Jean-Christophe","family":"Zech","sequence":"first","affiliation":[{"name":"Centre Ophtalmologique Kleber, 69006 Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5496-4604","authenticated-orcid":false,"given":"Audrey","family":"Putoux","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Unit\u00e9 de G\u00e9n\u00e9tique Clinique, Centre Labellis\u00e9 Anomalies du D\u00e9veloppement, Hospices Civils de Lyon, 69500 Bron, France"},{"name":"Centre de Recherche en Neurosciences de Lyon, Equipe GENDEV, INSERM U1028, UMR CNRS 5292, Universit\u00e9 Claude Bernard Lyon 1, 69500 Bron, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2412-4767","authenticated-orcid":false,"given":"Evelyne","family":"Decullier","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de Recherche Clinique, P\u00f4le Sant\u00e9 Publique, Hospices Civils de Lyon, 69003 Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Emmanuelle","family":"Fargeton","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Unit\u00e9 de G\u00e9n\u00e9tique Clinique, Centre de Comp\u00e9tence Syndrome de Marfan et Apparent\u00e9s, Hospices Civils de Lyon, 69500 Bron, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8976-5832","authenticated-orcid":false,"given":"Patrick","family":"Edery","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Unit\u00e9 de G\u00e9n\u00e9tique Clinique, Centre Labellis\u00e9 Anomalies du D\u00e9veloppement, Hospices Civils de Lyon, 69500 Bron, France"},{"name":"Centre de Recherche en Neurosciences de Lyon, Equipe GENDEV, INSERM U1028, UMR CNRS 5292, Universit\u00e9 Claude Bernard Lyon 1, 69500 Bron, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henri","family":"Plauchu","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Unit\u00e9 de G\u00e9n\u00e9tique Clinique, Centre de Comp\u00e9tence Syndrome de Marfan et Apparent\u00e9s, Hospices Civils de Lyon, 69500 Bron, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8834-5526","authenticated-orcid":false,"given":"Sophie","family":"Dupuis-Girod","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Unit\u00e9 de G\u00e9n\u00e9tique Clinique, Centre de Comp\u00e9tence Syndrome de Marfan et Apparent\u00e9s, Hospices Civils de Lyon, 69500 Bron, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,3,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1136\/hrt.2006.098798","article-title":"Marfan syndrome: An update of genetics, medical and surgical management","volume":"93","author":"Robinson","year":"2007","journal-title":"Heart"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1038\/sj.ejhg.5201851","article-title":"Marfan syndrome: Clinical diagnosis and management","volume":"15","author":"Dean","year":"2007","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_3","first-page":"684","article-title":"The eye in the Marfan syndrome","volume":"79","author":"Maumenee","year":"1981","journal-title":"Trans. Am. Phthalmol. Soc."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/352337a0","article-title":"Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene","volume":"352","author":"Dietz","year":"1991","journal-title":"Nature"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1002\/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R","article-title":"Revised diagnostic criteria for the Marfan syndrome","volume":"62","author":"Devereux","year":"1996","journal-title":"Am. Med. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1136\/jmg.2009.072785","article-title":"The revised Ghent nosology for the Marfan syndrome","volume":"47","author":"Loeys","year":"2010","journal-title":"J. Med. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1136\/jmg.2005.039669","article-title":"The molecular genetics of Marfan syndrome and related disorders","volume":"43","author":"Robinson","year":"2006","journal-title":"J. Med. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"2447","DOI":"10.1001\/archinte.161.20.2447","article-title":"Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome","volume":"161","author":"Loeys","year":"2001","journal-title":"Arch. Intern. Med."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"2499","DOI":"10.1083\/jcb.103.6.2499","article-title":"Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils","volume":"103","author":"Sakai","year":"1986","journal-title":"J. Cell Biol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1056\/NEJM199007193230303","article-title":"Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome","volume":"323","author":"Hollister","year":"1990","journal-title":"N. Eng. J. Med."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1016\/j.survophthal.2006.08.008","article-title":"Current concepts of ocular manifestations in Marfan syndrome","volume":"51","author":"Nemet","year":"2006","journal-title":"Surv. Ophthalmol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1312","DOI":"10.1136\/bjo.84.11.1312","article-title":"Fibrillin and the eye","volume":"84","author":"Ashworth","year":"2000","journal-title":"Br. J. Ophthahlmol."},{"key":"ref_13","first-page":"84","article-title":"A comparative histologic study of the fibrillin microfibrillar system in the lens capsule of normal subjects and subjects with Marfan syndrome","volume":"39","author":"Mir","year":"1998","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1042\/bj3400171","article-title":"Fibrillin degradation by matrix metalloproteinases: Implications for connective tissue remodelling","volume":"15","author":"Ashworth","year":"1999","journal-title":"Biochem. J."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"3291","DOI":"10.1093\/eurheartj\/ehw154","article-title":"The search for genotype\/phenotype correlation in Marfan syndrome: To be or not to be?","volume":"37","author":"Loeys","year":"2016","journal-title":"Eur. Heart J."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/j.gene.2016.07.033","article-title":"FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders","volume":"592","author":"Sakai","year":"2016","journal-title":"Gene"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1038\/gim.2014.91","article-title":"Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events","volume":"17","author":"Baudhuin","year":"2015","journal-title":"Genet. Med."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"3285","DOI":"10.1093\/eurheartj\/ehv739","article-title":"Genotype impacts survival in Marfan syndrome","volume":"37","author":"Franken","year":"2016","journal-title":"Eur. Heart J."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1016\/j.ajo.2017.02.022","article-title":"Biometry characteristics in adults and children with Marfan syndrome: From the Marfan eye consortium of Chicago","volume":"177","author":"Kinori","year":"2017","journal-title":"Am. J. Ophthalmol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1111\/j.1651-2227.1997.tb15176.x","article-title":"Marfan syndrome and other systemic disorders with congenital ectopia lentis. A Danish national survey","volume":"86","author":"Fuchs","year":"1997","journal-title":"Acta Paediatr."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1136\/bjophthalmol-2012-302921","article-title":"Grading in ectopia lentis (GEL): A novel classification system","volume":"97","author":"Chandra","year":"2013","journal-title":"Br. J. Ophthalmol."},{"key":"ref_22","first-page":"81","article-title":"Lens subluxation grading system: Predictive value for ectopia lentis surgical outcomes","volume":"7","author":"Waiswol","year":"2009","journal-title":"Einstein"},{"key":"ref_23","first-page":"813","article-title":"Marfan syndrome diagnosis by ophthalmologist. Predictive value of ectopia lentis in a genotyped population","volume":"44","author":"Bogotean","year":"2003","journal-title":"ARVO Ann. Meet. Abstr."},{"key":"ref_24","doi-asserted-by":"crossref","unstructured":"Traboulsi, E.I., and Apte, S.S. (2011). Ectopia Lentis and Associated Systemic Disease. Genetic Diseases of the Eye, Oxford University Press. [2nd ed.].","DOI":"10.1093\/med\/9780195326147.003.0043"},{"key":"ref_25","doi-asserted-by":"crossref","unstructured":"Wang, X., and Dong, J. (2018). Effect of pupil dilation on biometric measurements and intracular lens power calculations in schoolchildren. PLoS ONE, 13.","DOI":"10.1371\/journal.pone.0203677"}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/9\/3\/721\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T09:04:59Z","timestamp":1760173499000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/9\/3\/721"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,6]]},"references-count":25,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2020,3]]}},"alternative-id":["jcm9030721"],"URL":"https:\/\/doi.org\/10.3390\/jcm9030721","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,3,6]]}}}