Keratoconus associated with Williams-Beuren syndrome: First case reports

Ophthalmic Genetics

Volumn 31, Issue 4, 2010, Pages 252-256

  Pinsard, Loic ^a   Touboul, David ^a   Vu, Yen ^a   Lacombe, Didier ^a   Leger, Francois ^a   Colin, Joseph ^a  

^a UNIVERSITÉ DE BORDEAUX   (France)

Author keywords

Contiguous genes syndrome; Corneal; Ectasia; Elastin; Keratoconus; Williams Beuren syndrome

Indexed keywords

ELASTIN;

ADULT; ARTICLE; CASE REPORT; CLINICAL ASSESSMENT; CLINICAL FEATURE; CYTOGENETICS; DISEASE ASSOCIATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC LINKAGE; HISTOPATHOLOGY; HUMAN; INTERVIEW; KERATOCONUS; KERATOMETRY; MALE; OBESITY; PRIORITY JOURNAL; RISK FACTOR; SLIT LAMP; VISUAL ACUITY; WILLIAMS BEUREN SYNDROME;

ADULT; CHROMOSOMES, HUMAN, PAIR 7; CORNEA; CORNEAL TOPOGRAPHY; ELASTIN; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KERATOCONUS; MALE; RISK FACTORS; VISUAL ACUITY; WILLIAMS SYNDROME; YOUNG ADULT;

EID: 78649270479     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2010.523038     Document Type: Article

References (27)

1. Strømme P, Bjørnstad PG, Ramstad, K. Prevalence estimation of Williams syndrome. J Child Neurol 2002;17:269-271.
2. Pober BR. Williams-Beuren syndrome. N Engl J Med 2010;362:239-252.
3. Winter M, Pankau R, Amm M, et al. The spectrum of ocular features in the Williams. Beuren syndrome. Clin Genet 1996;49:28-31.
4. Sadler LS, Olitsky SE, Reynolds JD. Reduced stereoacuity in Williams syndrome. Am J Med Genet 1996; 66:287-288.
5. Schubert C. The genomic basis of the Williams-Beuren syndrome. Cell Mol Life Sci 2009;66:1178-1197.
6. 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.
7. Curran ME, Atkinson DL, Ewart AK, et al. The elastin gene is disrupted by a translocation associated with supravalvu-lar aortic stenosis. Cell 1993;73:159-168.
8. Ewart AK, Morris CA, Atkinson D, et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 1993;5:11.
9. Rabinowitz YS. Keratoconus. Survey of Ophthalmology 1998;42:297-319.
10. Gefen A, Shalom R, Elad D, Mandel Y. Biomechanical analysis of the keratoconic cornea. J Mech Behav Biomed Mater 2009;2:224-236.
11. Yue BY, Baum JL, Silbert JE. The synthesis of glycosamino-glycans by cultures of corneal stromal cells from patients with keratoconus. J Clin Invest 1979;63:545-551.
12. Colin J, Simonpoli S. Keratoconus: current surgical options. J Fr Ophtalmol 2005;28:205-217.
13. Aknin C, Allart JF, Rouland JF. Unilateral keratoconus and mirror image in a pair of monozygotic twins. J Fr Ophthalmol 2007;30:899-902.
14. Tang YG, Rabinowitz YS, Taylor KD, et al. Genomewide linkage scan in a multigeneration Caucasian pedigree iden-tifes a novel locus for keratoconus on chromosome 5q14.3-q21.1. Genet Med 2005;7:397-405.
15. 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.
16. Brancati F, Valente EM, Sarkozy A, et al. A locus for auto-somal dominant keratoconus maps to human chromosome 3p14. q13. J Med Genet 2004;41:188-192.
17. Hutchings H, Ginisty H, Le Gallo M, et al. Identifcation of a new locus for isolated familial keratoconus at 2p24. J Med Genet 2005;42:88-94.
18. 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.
19. 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.
20. 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.
21. Ebihara N, Funaki T, Matsuda H, et al. Corneal abnormalities in the NC/Nga mouse: an atopic dermatitis model. Cornea 2008; 27:923-929.
22. Van Hagen JM, Eussen HJ, Van Schooten R, et al. Comparing two diagnostic laboratory tests for Williams syndrome: fuo-rescent in situ hybridization versus multiplex ligation-de-pendent probe amplifcation. Genet Test 2007; 11:321-327.
23. 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.
24. Isnard N, Thevenin D, Robert L, et al. Tropoelastin biosynthesis by corneal cells. Epithelial inhibition of kera-tocyte tropoelastin biosynthesis. Ophthalmologica 2004;218:36-42.
25. Marshall GE. Human scleral elastic system: an immunoelec-tron microscopic study. Br J Ophthalmol 1995;79:57-64.
26. 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.
27. Colen J. European Clinical evaluation: Use of Intacts for the Treatment of Keratoconus. J Cataract Refract Surg. 2006 May; 32(5): 747-755.