Keratoglobus and Deep Stromal Corneal Opacification in a Case of Arterial Tortuosity Syndrome

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