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DOI: 10.1055/s-0031-1273225
© Georg Thieme Verlag KG Stuttgart · New York
Keratoglobus and Deep Stromal Corneal Opacification in a Case of Arterial Tortuosity Syndrome
Keratoglobus und tief-stromale Hornhauttrübung in einem Fall von Arterial Tortuosity SyndromePublication History
Publication Date:
11 April 2011 (online)
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Background
Arterial-Tortuosity-Syndrome (ATS) [3] is an extremely rare autosomal recessive connective tissue disorder. It is characterized by tortuation and elongation of large and medium-sized arteries that are predisposed to aneurysm development and dissection. Further signs include dysmorphic features, herniae, hyperextensible skin, cutis laxa, joint hypermobility, skeletal abnormalities, and congenital contractures [2] [4]. The defective gene responsible for the improper extracellular matrix formation has been identified (SLC2A10) [4]. Myopia and keratectasia (both keratoconus and keratoglobus) represent the two ophthalmological features of ATS reported so far [1]. We report the case of a pediatric patient diagnosed with ATS, confirmed by genetic testing, who presented with ophthalmological pathologies that have not been described in this syndrome as yet.
References
- 1 Callewaert B L, Willaert A, Kerstjens-Frederikse W S et al. Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. Hum Mutat 2008. 2008; 29 (1) 150-158
- 2 Franceschini P, Guala A, Licata D et al. Arterial tortuosity syndrome. Am J Med Genet 2000 Mar. 2000; 91 (2) 141-143
- 3 Meyer S, Faiyaz-Ul-Haque M, Zankl M et al. Arterial tortuosity syndrome. Klin Padiatr 2005. 2005; 217 (1) 36-40
- 4 Ritelli M, Drera B, Vicchio M et al. Arterial tortuosity syndrome in two Italian paediatric patients. Orphanet J Rare Dis 2009 Sep. 2009; 4 20
Dr. Simon Hasler
Department of Ophthalmology, Cantonal Hospital Winterthur
Brauerstrasse 15
8400 Winterthur, Switzerland
Phone: ++ 41/52/2 66 28 06
Fax: ++ 41/52/2 66 45 11
Email: sih@gmx.net