Abnormal Extraocular Muscle Insertion in Williams Beuren Syndrome (WBS)

Introduction

Wiliams Beuren syndrome (WBS) is a multisystemic genetic disorder with sporadic transmission, due to contiguous gene deletion on the 7th chromosome on the locus q11.23. Clinical criterias are mental retardation, congenital heart disease such as aortic stenosis and high blood pressure, “elfin” facial appearance [[Fig. 1]] and hypercalcemia [1]. Ocular conditions in WBS are mentioned by only few articles and mention hyperopia, iris atrophy, retinian vessels tortuosity, epicanthal folds and keratoconus [2], [3]. Strabismus has been described in up to 20 % of cases and those patients often have to undergo surgery.

• References

• 1 Pober R. Williams-Beuren syndrome. N Engl J Med 2010; 362: 239-252
• 2 Winter M, Pankau R, Amm M et al. The spectrum of ocular features in the Willams-Beuren syndrome. Clin Genet 1996; 49: 28-31
• 3 Viana MM, Frasson M, Leão LL et al. A new case of keratoconus associated with Willimans-Beuren syndrome. Ophtalmic Genet 2013; 34: 174-177
• 4 Greenberg F, Lewis RA. The Williams syndrome. Spectrum and significance of ocular features. Ophthalmology 1988; 95: 1608-1612
• 5 de Ancos E, Klainguti G. Strabisme et syndrome de Williams Beuren. Presentaton de trois cas operes. Klin Monatsbl Augenheilkd 1996; 208: 340-342
• 6 Syed M, Ali G, Shun A. Abnormal extraocular muscle anatomy in a case of Williams-Beuren Syndrome. J AAPOS 2009; 13: 196-197
• 7 Curran ME, Atkinson DL, Ewart AK et al. The elastin gene is disrupted by a tanslocation associated with supravalvular aortic stenosis. Cell 1993; 73: 159-168
• 8 Johnson LW, Fishman RA, Schneider B et al. Familial supravalvular aortic stenosis: report of a large family and review of literature. Chest 1976; 70: 494-500