Ocular Features in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type: A Clinical and In Vivo Confocal Microscopy Study
Tài liệu tham khảo
Tinkle, 2009, The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome), Am J Med Genet A, 149A, 2368, 10.1002/ajmg.a.33070
Hakim, 2006, Joint hypermobility and skin elasticity: the hereditary disorders of connective tissue, Clin Dermatol, 24, 521, 10.1016/j.clindermatol.2006.07.013
Voermans, 2011, Both pain and fatigue are important possible determinants of disability in patients with the Ehlers-Danlos syndrome hypermobility type, Disabil Rehabil, 33, 706, 10.3109/09638288.2010.531373
Narcisi, 1994, A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen, Hum Mol Genet, 3, 1617, 10.1093/hmg/3.9.1617
Schalkwijk, 2001, A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency, N Engl J Med, 345, 1167, 10.1056/NEJMoa002939
Zweers, 2003, Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome, Am J Hum Genet, 73, 214, 10.1086/376564
Hendriks, 2012, Well-defined clinical presentation of Ehlers-Danlos syndrome in patients with tenascin-X deficiency: a report of four cases, Clin Dysmorphol, 21, 15, 10.1097/MCD.0b013e32834c4bb7
Beighton, 1998, Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997, Am J Med Genet, 77, 31, 10.1002/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O
Grahame, 2000, The revised (Brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS), J Rheumatol, 27, 1777
Hakim, 2003, Joint hypermobility, Best Pract Res Clin Rheumatol, 17, 989, 10.1016/j.berh.2003.08.001
Remvig, 2011, Rheumatology, 50, 1169, 10.1093/rheumatology/ker140
Snead, 2011, Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist, Eye, 25, 1389, 10.1038/eye.2011.201
Mishra, 1996, Extra-articular features of benign joint hypermobility syndrome, Br J Rheumatol, 35, 861, 10.1093/rheumatology/35.9.861
Bravo, 2006, Clinical study of hereditary disorders of connective tissues in a Chilean population: joint hypermobility syndrome and vascular Ehlers-Danlos syndrome, Arthritis Rheum, 54, 515, 10.1002/art.21557
McDermott, 1998, Corneal topography in Ehlers-Danlos syndrome, J Cataract Refract Surg, 24, 1212, 10.1016/S0886-3350(98)80013-8
Beighton, 1973, Articular mobility in an African population, Ann Rheum Dis, 32, 413, 10.1136/ard.32.5.413
Schiffman, 2000, Reliability and validity of the Ocular Surface Disease Index, Arch Ophthalmol, 118, 615, 10.1001/archopht.118.5.615
Patel, 2001, Normal human keratocyte density and corneal thickness measurement by using confocal microscopy in vivo, Invest Ophthalmol Vis Sci, 42, 333
Oliveira-Soto, 2001, Morphology of corneal nerves using confocal microscopy, Cornea, 20, 374, 10.1097/00003226-200105000-00008
Gazit, 2003, Dysautonomia in the joint hypermobility syndrome, Am J Med, 115, 33, 10.1016/S0002-9343(03)00235-3
Schenke-Layland, 2008, Increased degradation of extracellular matrix structures of lacrimal glands implicated in the pathogenesis of Sjögren's syndrome, Matrix Biol, 27, 53, 10.1016/j.matbio.2007.07.005
Segev, 2006, Structural abnormalities of the cornea and lid resulting from collagen V mutations, Invest Ophthalmol Vis Sci, 47, 565, 10.1167/iovs.05-0771
Royce, 1990, Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation, Eur J Pediatr, 149, 465, 10.1007/BF01959396
Halfter, 2006, Regulation of eye size by the retinal basement membrane and vitreous body, Invest Ophthalmol Vis Sci, 47, 3586, 10.1167/iovs.05-1480
Malfait, 2006, The genetic basis of the joint hypermobility syndromes, Rheumatology, 45, 502, 10.1093/rheumatology/kei268
Young, 1998, A second locus for familial high myopia maps to chromosome 12q, Am J Hum Genet, 63, 1419, 10.1086/302111
Chakravarti, 2003, Ocular and scleral alterations in gene-targeted lumican-fibromodulin double-null mice, Invest Ophthalmol Vis Sci, 44, 2422, 10.1167/iovs.02-0783
Benítez del Castillo, 2004, An in vivo confocal masked study on corneal epithelium and subbasal nerves in patients with dry eye, Invest Ophthalmol Vis Sci, 45, 3030, 10.1167/iovs.04-0251
Zhang, 2005, Altered corneal nerves in aqueous tear deficiency viewed by in vivo confocal microscopy, Cornea, 24, 818, 10.1097/01.ico.0000154402.01710.95
Villani, 2007, The cornea in Sjögren's syndrome: an in vivo confocal study, Invest Ophthalmol Vis Sci, 48, 2017, 10.1167/iovs.06-1129
Vij, 2004, Lumican suppresses cell proliferation and aids Fas-Fas ligand mediated apoptosis: implications in the cornea, Exp Eye Res, 78, 957, 10.1016/j.exer.2003.12.006