Advanced search
Publication Cover
Ophthalmic Genetics Volume 31, 2010 - Issue 4
Submit an article Journal homepage
111
Views
12
CrossRef citations to date
0
Altmetric
Original Article

Keratoconus associated with Williams–Beuren syndrome: First case reports

Loic PinsardOphthalmology Department, Keratoconus National Reference Center (CNRK), Bordeaux Hospital, Bordeaux UniversityCorrespondence[email protected]
,
David TouboulOphthalmology Department, Keratoconus National Reference Center (CNRK), Bordeaux Hospital, Bordeaux University
,
Yen VuGenetic Department, Pellegrin Hospital, Bordeaux University
,
Didier LacombeGenetic Department, Pellegrin Hospital, Bordeaux University
,
Francois LegerAnatomic Pathology Department, Pellegrin Hospital, Bordeaux University, France
&
Joseph ColinOphthalmology Department, Keratoconus National Reference Center (CNRK), Bordeaux Hospital, Bordeaux University
Pages 252-256 | Received 23 Mar 2010, Accepted 04 Sep 2010, Published online: 11 Nov 2010

REFERENCES

  • Strømme P, Bjørnstad PG, Ramstad, K. Prevalence estimation of Williams syndrome. J Child Neurol 2002;17:269–271.
  • Pober BR. Williams-Beuren syndrome. N Engl J Med 2010;362:239–252.
  • Winter M, Pankau R, Amm M, et al. The spectrum of ocular features in the Williams. Beuren syndrome. Clin Genet 1996;49:28–31.
  • Sadler LS, Olitsky SE, Reynolds JD. Reduced stereoacuity in Williams syndrome. Am J Med Genet 1996; 66:287–288.
  • Schubert C. The genomic basis of the Williams-Beuren syndrome. Cell Mol Life Sci 2009;66:1178–1197.
  • Kececioglu D, Kotthoff S, Vogt J. Williams-Beuren syndrome: a 30-year follow-up of natural and postoperative course. Eur Heart J 1993;14:1458–1464.
  • Curran ME, Atkinson DL, Ewart AK, et al. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell 1993;73:159–168.
  • Ewart AK, Morris CA, Atkinson D, et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 1993;5:11.
  • Rabinowitz YS. Keratoconus. Survey of Ophthalmology 1998;42:297–319.
  • Gefen A, Shalom R, Elad D, Mandel Y. Biomechanical analysis of the keratoconic cornea. J Mech Behav Biomed Mater 2009;2:224–236.
  • Yue BY, Baum JL, Silbert JE. The synthesis of glycosaminoglycans by cultures of corneal stromal cells from patients with keratoconus. J Clin Invest 1979;63:545–551.
  • Colin J, Simonpoli S. Keratoconus: current surgical options. J Fr Ophtalmol 2005;28:205–217.
  • Aknin C, Allart JF, Rouland JF. Unilateral keratoconus and mirror image in a pair of monozygotic twins. J Fr Ophthalmol 2007;30:899–902.
  • Tang YG, Rabinowitz YS, Taylor KD, et al. Genomewide linkage scan in a multigeneration Caucasian pedigree identifies a novel locus for keratoconus on chromosome 5q14.3-q21.1. Genet Med 2005;7:397–405.
  • Tyynismaa H, Sistonen P, Tuupanen S, et al. A locus for autosomal dominant keratoconus: linkage to 16q22.3-q23.1 in Finnish families. Invest Ophthalmol Vis Sci 2002;43:3160–3164.
  • Brancati F, Valente EM, Sarkozy A, et al. A locus for autosomal dominant keratoconus maps to human chromosome 3p14. q13. J Med Genet 2004;41:188–192.
  • Hutchings H, Ginisty H, Le Gallo M, et al. Identification of a new locus for isolated familial keratoconus at 2p24. J Med Genet 2005;42:88–94.
  • Gajecka M, Radhakrishna U, Winters D, et al. Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32. Invest Ophthalmol Vis Sci 2009;50:1531–1439.
  • Van Splunder J, Stilma JS, Bernsen RM, Evenhuis HM. Prevalence of ocular diagnoses found on screening 1539 adults with intellectual disabilities. Ophthalmology 2004;111:1457–1463.
  • Weed KH, MacEwen CJ, Giles T, et al. The Dundee University Scottish Keratoconus study: demographics, corneal signs, associated diseases, and eye rubbing. Eye 2008;22:534–541.
  • Ebihara N, Funaki T, Matsuda H, et al. Corneal abnormalities in the NC/Nga mouse: an atopic dermatitis model. Cornea 2008; 27:923–929.
  • Van Hagen JM, Eussen HJ, Van Schooten R, et al. Comparing two diagnostic laboratory tests for Williams syndrome: fluorescent in situ hybridization versus multiplex ligation-dependent probe amplification. Genet Test 2007; 11:321–327.
  • Howald C, Merla G, Digilio MC, et al. Two high-throughput technologies to detect segmental aneuploidies identify new Williams-Beuren Syndrome patients with atypical deletions. J Med Genet 2006; 43:266–273.
  • Isnard N, Thevenin D, Robert L, et al. Tropoelastin biosynthesis by corneal cells. Epithelial inhibition of keratocyte tropoelastin biosynthesis. Ophthalmologica 2004;218:36–42.
  • Marshall GE. Human scleral elastic system: an immunoelectron microscopic study. Br J Ophthalmol 1995;79:57–64.
  • Kopaeva VG, Zatulina NI, Legkikh LS. Clinical and morphological aspects of the state of the sclera in various types of genetically determined corneal changes. Vestn Oftalmol 1992;108:17–19.
  • Colen J. European Clinical evaluation: Use of Intacts for the Treatment of Keratoconus. J Cataract Refract Surg. 2006 May;32(5): 747–755.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.