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Research Reports

Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1)

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Pages 21-26 | Received 20 Feb 2012, Accepted 31 Jul 2012, Published online: 06 Sep 2012

REFERENCES

  • Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991;352:337–339.
  • Faivre L, Collod-Beroud G, Loeys BL, et al. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet 2007;81:454–466.
  • Nelson LB, Maumenee IH. Ectopia lentis. Surv Ophthalmol 1982;27:143–160.
  • Korkko J, Kaitila I, Lonnqvist L, Peltonen L, Ala-Kokko L. Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. J Med Genet 2002;39:34–41
  • Arnold PJ, Donohoe MJ, Greenwald MJ, Mets MB. Iridocorneal adhesions in patients with the Marfan syndrome. Ophthalmic Genet 1999;20:265–269.
  • Comeglio P, Evans AL, Brice G, Cooling RJ, Child AH. Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus. Br J Ophthalmol 2002;86:1359–1362.
  • Katzke S, Booms P, Tiecke F, et al. TGGE screening of the entire FBN1 coding sequence in 126 individuals with Marfan syndrome and related fibrillinopathies. Hum Mutat 2002;20:197–208.
  • Sui RF, Wei HB, Zhao JL, Hu SY, Wang B, Huang SZ, Dong M. Novel mutation of fibrillin 1 gene causes ectopia lentis in a Chinese family. Zhonghua Yan Ke Za Zhi 2004;40:828–831.
  • Deng T, Dong B, Zhang X, Dai H, Li Y. Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1. Mol Vis 2008;14:1229–1233.
  • Yu R, Lai Z, Zhou W, Ti DD, Zhang XN. Recurrent FBN1 mutation (R62C) in a Chinese family with isolated ectopia lentis. Am J Ophthalmol 2006;141:1136–1138.
  • 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;161:2447–2454.
  • Cruysberg JR, Pinckers A. Ectopia lentis et pupillae syndrome in three generations. Br J Ophthalmol 1995;79:135–138.
  • Faivre L, Collod-Beroud G, Callewaert B, et al. Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion. Am J Med Genet A 2009;149A:854–860.
  • Schrijver I, Liu W, Brenn T, Furthmayr H, Francke U. Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. Am J Hum Genet 1999;65:1007–1020.
  • Wheatley HM, Traboulsi EI, Flowers BE, Maumenee IH, Azar D, Pyeritz RE, Whittum-Hudson JA. Immunohistochemical localization of fibrillin in human ocular tissues. Relevance to the Marfan syndrome. Arch Ophthalmol 1995;113:103–109.
  • Ueda J, Yue BY. Distribution of myocilin and extracellular matrix components in the corneoscleral meshwork of human eyes. Invest Ophthalmol Vis Sci 2003;44:4772–4779.
  • Tandon PN, Autar R. Flow of aqueous humor in the canal of Schlemm. Math Biosci 1989;93:53–78.
  • Challa P, Hauser MA, Luna CC, et al. Juvenile bilateral lens dislocation and glaucoma associated with a novel mutation in the fibrillin 1 gene. Mol Vis 2006;12:1009–1015.

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