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Congenital Fibrosis of the Extraocular Muscles 4

MedGen UID:
468527
Concept ID:
CN120301
Disease or Syndrome

Authors:
Mary C Whitman  |  Julie A Jurgens  |  David G Hunter, et. al.   view full author information

Recent clinical studies

Etiology

Akbari MR, Khorrami-Nejad M, Shakor YA, Dehghanian Nasrabadi F, Kangari H, Dalvand H
J Binocul Vis Ocul Motil 2024 Jan-Mar;74(1):9-16. Epub 2023 Nov 20 PMID: 37983128
Sener EC, Taylan Sekeroglu H, Ural O, Oztürk BT, Sanaç AS
Ophthalmic Genet 2014 Dec;35(4):208-25. Epub 2014 Oct 27 doi: 10.3109/13816810.2014.973044. PMID: 25347047
Merino P, Gómez de Liaño P, Fukumitsu H, Franco G, Ruiz Y
Strabismus 2013 Sep;21(3):183-9. doi: 10.3109/09273972.2013.811605. PMID: 23978146
Tukel T, Uzumcu A, Gezer A, Kayserili H, Yuksel-Apak M, Uyguner O, Gultekin SH, Hennies HC, Nurnberg P, Desnick RJ, Wollnik B
J Med Genet 2005 May;42(5):408-15. doi: 10.1136/jmg.2004.026138. PMID: 15863670Free PMC Article
Tiab L, d'Allèves Manzi V, Borruat FX, Munier F, Schorderet D
Ophthalmic Genet 2004 Dec;25(4):241-6. doi: 10.1080/13816810490902828. PMID: 15621876

Diagnosis

Hedergott A, Pink-Theofylaktopoulos U, Neugebauer A, Fricke J
Graefes Arch Clin Exp Ophthalmol 2021 Jan;259(1):145-155. Epub 2020 Sep 19 doi: 10.1007/s00417-020-04939-7. PMID: 32949299Free PMC Article
Thomas MG, Maconachie GDE, Constantinescu CS, Chan WM, Barry B, Hisaund M, Sheth V, Kuht HJ, Dineen RA, Harieaswar S, Engle EC, Gottlob I
Br J Ophthalmol 2020 Apr;104(4):547-550. Epub 2019 Jul 13 doi: 10.1136/bjophthalmol-2019-314293. PMID: 31302631Free PMC Article
Merino P, Gómez de Liaño P, Fukumitsu H, Franco G, Ruiz Y
Strabismus 2013 Sep;21(3):183-9. doi: 10.3109/09273972.2013.811605. PMID: 23978146
Lim KH, Engle EC, Demer JL
Invest Ophthalmol Vis Sci 2007 Apr;48(4):1601-6. doi: 10.1167/iovs.06-0691. PMID: 17389489Free PMC Article
Yazdani A, Traboulsi EI
Ophthalmology 2004 May;111(5):1035-42. doi: 10.1016/j.ophtha.2003.08.030. PMID: 15121385

Prognosis

Merino P, Gómez de Liaño P, Fukumitsu H, Franco G, Ruiz Y
Strabismus 2013 Sep;21(3):183-9. doi: 10.3109/09273972.2013.811605. PMID: 23978146
Miyake N, Tonoki H, Gallego M, Harada N, Shimokawa O, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N
J Hum Genet 2004;49(5):282-4. doi: 10.1007/s10038-004-0144-5. PMID: 15362574

Clinical prediction guides

Akbari MR, Khorrami-Nejad M, Shakor YA, Dehghanian Nasrabadi F, Kangari H, Dalvand H
J Binocul Vis Ocul Motil 2024 Jan-Mar;74(1):9-16. Epub 2023 Nov 20 PMID: 37983128
Chen J, Ye Q, Deng D, Yan J, Lin H, Shen T, Lin Y
Mol Med Rep 2016 Oct;14(4):3145-51. Epub 2016 Aug 11 doi: 10.3892/mmr.2016.5624. PMID: 27513105Free PMC Article
Tukel T, Uzumcu A, Gezer A, Kayserili H, Yuksel-Apak M, Uyguner O, Gultekin SH, Hennies HC, Nurnberg P, Desnick RJ, Wollnik B
J Med Genet 2005 May;42(5):408-15. doi: 10.1136/jmg.2004.026138. PMID: 15863670Free PMC Article
Tiab L, d'Allèves Manzi V, Borruat FX, Munier F, Schorderet D
Ophthalmic Genet 2004 Dec;25(4):241-6. doi: 10.1080/13816810490902828. PMID: 15621876
Traboulsi EI, Lee BA, Mousawi A, Khamis AR, Engle EC
Am J Ophthalmol 2000 May;129(5):658-62. doi: 10.1016/s0002-9394(99)00467-5. PMID: 10844060

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