Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series

References

• Callewaert BE, Willaert A, Kerstjens-Frederikse WS, et al. Arterial tortuosity syndrome: clinical and molecular findings of 12 newly identified families. Hum Mutat 2008;29(1):150–158.
   PubMed Web of Science ®Google Scholar
• Couke PJ, Wessels MW, Acker PV, et al. Homozygosity mapping of a gene for ATS to chromosome 20q13. J Med Genet 2003;40:747–751.
   PubMed Web of Science ®Google Scholar
• Couke PJ, Willaert A, Wessels MW, et al. Mutations in the facilitative glucose transport GLUT10 alter angiogenesis and cause ATS. Nat Genet 2006;38(4):452–457.
   PubMed Web of Science ®Google Scholar
• Ertugrul, A. Diffuse tortuosity and lengthening of the arteries. Circulation 1967;36:400–407.
   PubMed Web of Science ®Google Scholar
• Beuren AJ, Hort W, Kalbfleisch H, et al. Dysplasia of the systemic and pulmonary arterial system with tortuosity and lengthening of the arteries. Circulation 1969;39:109–115.
   PubMed Web of Science ®Google Scholar
• Lees MH, Menashe VD, Sunderland CO, et al. Ehlers-Danlos syndrome associated with multiple pulmonary artery stenoses and tortuous systemic arteries. Pediatrics 1969;75(6):1031–1036.
   Google Scholar
• Welch JP, Aterman K, Day E., et al. Familial aggregation of a new connective-tissue disorder: a nosologic problem. Birth Defects 1971;7(8):204–213.
   PubMedGoogle Scholar
• Pletcher BA, Fox JE, Boxer RA, et al. Four sibs with arterial tortuosity. Am J Med Genet 1996;66:121–128.
   PubMed Web of Science ®Google Scholar
• Al Fadley F, Al Manea W, Nykanen DG, et al. Severe tortuosity and stenosis of the systemic pulmonary, and coronary vessels in 12 patients with similar phenotypic features: a new syndrome? Cardiol Young 2000;10:582–589.
   PubMed Web of Science ®Google Scholar
• Franceschini P, Guala A, Licata D, et al. Arterial tortuosity syndrome. Am J Med Genet 2000;91:141–143.
   PubMed Web of Science ®Google Scholar
• Wahab AA, Janahi IA, Eltohami A, et al. A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar. Acta Paediatr 2003;92:456–462.
   PubMed Web of Science ®Google Scholar
• Gardella R, Zoppi N, Assanelli D, et al. Exclusion of candidate genes in a family with arterial tortuosity syndrome. Am J Med Genet 2004;126A:221–228.
   Web of Science ®Google Scholar
• Zaidi SHE, Peltekova V, Meyer S, et al. A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13. Clin Genet 2004;67:183–188.
   Web of Science ®Google Scholar
• Wessels MW, Catsman-Berrevoets CE, Mancini GMS, et al. Three new families with arterial tortuosity syndrome. Am J Med Genet 2004;131A:134–143.
   Web of Science ®Google Scholar
• Cartwright MS, Hickling WH, Roach ES. Ischemic stroke in an adolescent with ATS. Neurology 2006;67:360–361.
   PubMed Web of Science ®Google Scholar
• Drera B, Guala A., Zoppi N, et al. Research Letter: two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome. Am J Med Genet 2007;143A:216–218.
   Google Scholar
• Faiyaz-Ul-Jaque M, Zaidi SHE, Al-Sanna N, et al. A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome. Atherosclerosis 2009;203:466–471.
   PubMed Web of Science ®Google Scholar
• Ritelli M, Chiarelli N, Dordoni C, et al. Arterial tortuosity syndrome: homozygosity for two novel and one recurrent SLC2A10 missence mutations in three families with severe cardiopulmonary complications in infancy and literature review. BMC Med Genet 2014;6(15):122.
   Google Scholar
• Hasler S, Sturmer J, Kaufmann C. Keratoglobus and deep stromal corneal opacification in a case of arterial tortuosity syndrome. Klin Monatsbl Augenheildk 2011;228(4):345–346.
   PubMed Web of Science ®Google Scholar
• Zaidi SHE, Meyer S, Peltekova VD, et al. A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin. Eur J Pediatr 2009;168:867–870.
   PubMed Web of Science ®Google Scholar
• Genetics Home Reference Eds. Arterial Tortuosity Syndrome [Genetics Home Reference, US National Library of Medicine web site]. January 17, 2017. Available at: https://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome. Accessed January 21, 2017.
   Google Scholar
• Rivera IR, Gomes L, Moises VA, et al. Multiple arterial anomalies in the newborn infant: echocardiographic and angiographic diagnosis. Arq Bras Cardiol 2000;75(2):141–144.
   Google Scholar
• Dyrlund TF, Poulsen ET, Scavenius C, et al. Human corneal proteome: identification and quantitation of the proteins of the three main layers including epithelium, stroma, and endothelium. J Proteome Res 2012;11:4231–4239.
   PubMed Web of Science ®Google Scholar
• Xuan M, Wang S, Liu X, et al. Proteins of the corneal stroma: importance in visual function. Cell Tissue Res 2016;364:9–16.
   PubMed Web of Science ®Google Scholar
• Ikeda Y, Kawasaki S, Mori K, et al. Expression and tissue distribution of extracellular matrix proteins in Schwalbe’s line. Invest Ophthalmol Vis Sci 2005;46(13):3696.
   Google Scholar
• Aghamohammadzadeh H, Newton RH, Meek KM. X-ray scattering used to map the preferred collagen orientation in the human cornea and limbus. Structure 2004;12:249–256.
   PubMed Web of Science ®Google Scholar
• Boote C, Dennis S, Huang Y, et al. Lamellar orientation in human cornea in relation to mechanical properties. J Struct Biol 2005;149:1–6.
   PubMed Web of Science ®Google Scholar
• Wojcik KA, Blasiak J, Szaflik J, et al. Role of biomechanical factors in the pathogenesis of keratoconus. ACTA Biochim Pol 2014;61(1):55–62.
   PubMed Web of Science ®Google Scholar
• Dudakova L, Liskova P, Trojek T, et al. Changes in lysyl oxidase distribution and its decreased activity in keratoconus corneas. Exp Eye Res 2012;104:74–81.
   PubMed Web of Science ®Google Scholar
• Dudakova L, Jirsova K. The impairment of lysyl oxidase in keratoconus and in keratoconus-associated disorders. J Neural Transm 2013;120:977–982.
   PubMed Web of Science ®Google Scholar
• Pepe G, Giusti B, Sticchi E, et al. Marfan syndrome: current perspectives. Appl Clin Genet 2016;9:55–65.
   PubMedGoogle Scholar