Classifying Ectopia Lentis in Marfan Syndrome into Five Grades of Increasing Severity

Overview

Journal J Clin Med

Specialty General Medicine

Date 2020 Mar 12

PMID 32155956

Citations 4

Authors

Jean-Christophe Zech

Audrey Putoux

Evelyne Decullier

Anne-Emmanuelle Fargeton

Patrick Edery

Henri Plauchu

Sophie Dupuis-Girod

Affiliations

Soon will be listed here.

Abstract

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%.

Conclusion: 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.

Citing Articles

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References

Chandra A, Banerjee P, Charteris D . Grading in ectopia lentis (GEL): a novel classification system. Br J Ophthalmol. 2013; 97(7):942-3. DOI: 10.1136/bjophthalmol-2012-302921. View

Kinori M, Wehrli S, Kassem I, Azar N, Maumenee I, Mets M . Biometry Characteristics in Adults and Children With Marfan Syndrome: From the Marfan Eye Consortium of Chicago. Am J Ophthalmol. 2017; 177:144-149. PMC: 5648325. DOI: 10.1016/j.ajo.2017.02.022. View

Wang X, Dong J, Tang M, Wang X, Wang H, Zhang S . Effect of pupil dilation on biometric measurements and intraocular lens power calculations in schoolchildren. PLoS One. 2018; 13(9):e0203677. PMC: 6136745. DOI: 10.1371/journal.pone.0203677. View

Ashworth J, Kielty C, McLeod D . Fibrillin and the eye. Br J Ophthalmol. 2000; 84(11):1312-7. PMC: 1723284. DOI: 10.1136/bjo.84.11.1312. View

Mir S, Wheatley H, Hussels I, Whittum-Hudson J, Traboulsi E . A comparative histologic study of the fibrillin microfibrillar system in the lens capsule of normal subjects and subjects with Marfan syndrome. Invest Ophthalmol Vis Sci. 1998; 39(1):84-93. View

Fuchs J . Marfan syndrome and other systemic disorders with congenital ectopia lentis. A Danish national survey. Acta Paediatr. 1997; 86(9):947-52. DOI: 10.1111/j.1651-2227.1997.tb15176.x. View

Sakai L, Keene D, Engvall E . Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. J Cell Biol. 1986; 103(6 Pt 1):2499-509. PMC: 2114568. DOI: 10.1083/jcb.103.6.2499. View

Baudhuin L, Kotzer K, Lagerstedt S . Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events. Genet Med. 2014; 17(3):177-87. DOI: 10.1038/gim.2014.91. View

Dietz H, Cutting G, Pyeritz R, Maslen C, Sakai L, Corson G . Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 1991; 352(6333):337-9. DOI: 10.1038/352337a0. View

10.

Maumenee I . The eye in the Marfan syndrome. Trans Am Ophthalmol Soc. 1981; 79:684-733. PMC: 1312201. View

11.

Hollister D, Godfrey M, Sakai L, Pyeritz R . Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome. N Engl J Med. 1990; 323(3):152-9. DOI: 10.1056/NEJM199007193230303. View

12.

Loeys B, Nuytinck L, Delvaux I, de Bie S, De Paepe A . Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. Arch Intern Med. 2001; 161(20):2447-54. DOI: 10.1001/archinte.161.20.2447. View

13.

De Paepe A, Devereux R, Dietz H, Hennekam R, Pyeritz R . Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 1996; 62(4):417-26. DOI: 10.1002/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R. View

14.

Sakai L, Keene D, Renard M, De Backer J . FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. Gene. 2016; 591(1):279-291. PMC: 6639799. DOI: 10.1016/j.gene.2016.07.033. View

15.

Nemet A, Assia E, Apple D, Barequet I . Current concepts of ocular manifestations in Marfan syndrome. Surv Ophthalmol. 2006; 51(6):561-75. DOI: 10.1016/j.survophthal.2006.08.008. View

16.

Loeys B . The search for genotype/phenotype correlation in Marfan syndrome: to be or not to be?. Eur Heart J. 2016; 37(43):3291-3293. DOI: 10.1093/eurheartj/ehw154. View

17.

Robinson P, Arteaga-Solis E, Baldock C, Collod-Beroud G, Booms P, De Paepe A . The molecular genetics of Marfan syndrome and related disorders. J Med Genet. 2006; 43(10):769-87. PMC: 2563177. DOI: 10.1136/jmg.2005.039669. View

18.

von Kodolitsch Y, Robinson P . Marfan syndrome: an update of genetics, medical and surgical management. Heart. 2007; 93(6):755-60. PMC: 1955191. DOI: 10.1136/hrt.2006.098798. View

19.

Loeys B, Dietz H, Braverman A, Callewaert B, De Backer J, Devereux R . The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010; 47(7):476-85. DOI: 10.1136/jmg.2009.072785. View

20.

Dean J . Marfan syndrome: clinical diagnosis and management. Eur J Hum Genet. 2007; 15(7):724-33. DOI: 10.1038/sj.ejhg.5201851. View