Isolated ectopia lentis is a condition that affects the eyes, specifically the positioning of the lens.
genetic conditions
References
Chandra A, Aragon-Martin JA, Hughes K, Gati S, Reddy MA, Deshpande C, Cormack G, Child AH, Charteris DG, Arno G. A genotype-phenotype comparison of ADAMTSL4and FBN1 in isolated ectopia lentis. Invest Ophthalmol Vis Sci. 2012 Jul24;53(8):4889-96. doi: 10.1167/iovs.12-9874.
Chandra A, Patel D, Aragon-Martin JA, Pinard A, Collod-Béroud G, Comeglio P,Boileau C, Faivre L, Charteris D, Child AH, Arno G. The revised ghent nosology;reclassifying isolated ectopia lentis. Clin Genet. 2015 Mar;87(3):284-7. doi:10.1111/cge.12358.
Faivre L, Collod-Beroud G, Callewaert B, Child A, Loeys BL, Binquet C, GautierE, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M,Beroud C, Bonithon-Kopp C, Claustres M, Stheneur C, Bouchot O, Wolf JE, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G.Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus onpatients with an isolated major criterion. Am J Med Genet A. 2009May;149A(5):854-60. doi: 10.1002/ajmg.a.32809.
Fuchs J, Rosenberg T. Congenital ectopia lentis. A Danish national survey.Acta Ophthalmol Scand. 1998 Feb;76(1):20-6.
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