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Fibrosis of extraocular muscles, congenital, 3b(CFEOM3B)

MedGen UID:
416468
Concept ID:
C2751105
Disease or Syndrome
Synonym: Congenital Fibrosis of the Extraocular Muscles 3B
 
Monarch Initiative: MONDO:0800209
OMIM®: 135700; 608283

Professional guidelines

PubMed

Chen M, Huang R, Zhang Y, Zhu DJ, Shu Q, Xun P, Zhang J, Gu P, Li L
Graefes Arch Clin Exp Ophthalmol 2023 Mar;261(3):879-889. Epub 2022 Sep 23 doi: 10.1007/s00417-022-05830-3. PMID: 36138147Free PMC Article

Recent clinical studies

Etiology

Mravicic I, Lukacevic S, Biscevic A, Pjano MA, Ziga N, Tusek M
Med Arch 2023 Apr;77(2):137-141. doi: 10.5455/medarh.2023.77.137-141. PMID: 37260807Free PMC Article
Voermans NC, Jungbluth H, Aronica E, Monnier N, Lunardi J, Swash M, de Visser M
Neuromuscul Disord 2013 Feb;23(2):160-4. Epub 2012 Nov 3 doi: 10.1016/j.nmd.2012.08.010. PMID: 23127960

Diagnosis

Chen M, Huang R, Zhang Y, Zhu DJ, Shu Q, Xun P, Zhang J, Gu P, Li L
Graefes Arch Clin Exp Ophthalmol 2023 Mar;261(3):879-889. Epub 2022 Sep 23 doi: 10.1007/s00417-022-05830-3. PMID: 36138147Free PMC Article
Tawfik HA, Rashad MA
Middle East Afr J Ophthalmol 2012 Oct;19(4):416-8. doi: 10.4103/0974-9233.102764. PMID: 23248547Free PMC Article

Therapy

Cheng L, Desai J, Miranda CJ, Duncan JS, Qiu W, Nugent AA, Kolpak AL, Wu CC, Drokhlyansky E, Delisle MM, Chan WM, Wei Y, Propst F, Reck-Peterson SL, Fritzsch B, Engle EC
Neuron 2014 Apr 16;82(2):334-49. Epub 2014 Mar 20 doi: 10.1016/j.neuron.2014.02.038. PMID: 24656932Free PMC Article

Prognosis

Ali Z, Xing C, Anwar D, Itani K, Weakley D, Gong X, Pascual JM, Mootha VV
Mol Vis 2014;20:368-75. Epub 2014 Mar 28 PMID: 24715754Free PMC Article
Voermans NC, Jungbluth H, Aronica E, Monnier N, Lunardi J, Swash M, de Visser M
Neuromuscul Disord 2013 Feb;23(2):160-4. Epub 2012 Nov 3 doi: 10.1016/j.nmd.2012.08.010. PMID: 23127960

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