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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

The Frequency and Manifestations of Ocular Causes of Abnormal Head Posture.
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
Outcome of silicone sling frontalis suspension in children with simple congenital and complex ptosis.
Landau Prat D, Zhao CS, Ramakrishnan M, Revere KE, Katowitz WR, Katowitz JA
Can J Ophthalmol 2024 Aug;59(4):264-269. Epub 2023 Jun 24 doi: 10.1016/j.jcjo.2023.06.002. PMID: 37364855
Tendon elongation with bovine pericardium in strabismus surgery-indications beyond Graves' orbitopathy.
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
Strabismus surgery in congenital fibrosis of the extraocular muscles: a paradigm.
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
Congenital fibrosis of the extraocular muscles: magnetic resonance imaging findings and surgical treatment.
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

Diagnosis

Congenital cranial dysinnervation disorder with homozygous KIF26A variant.
Gregg AT, Gateman T, Whitman MC
J AAPOS 2024 Aug;28(4):103951. Epub 2024 Jun 10 doi: 10.1016/j.jaapos.2024.103951. PMID: 38866323Free PMC Article
Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness.
Liberton DK, Almpani K, Mishra R, Bassim C, Van Ryzin C, On Behalf Of The Moebius Syndrome Research Consortium, Webb BD, Jabs EW, Engle EC, Collins FS, Manoli I, Lee JS
Int J Environ Res Public Health 2024 May 13;21(5) doi: 10.3390/ijerph21050615. PMID: 38791829Free PMC Article
Tendon elongation with bovine pericardium in strabismus surgery-indications beyond Graves' orbitopathy.
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
Congenital fibrosis of the extraocular muscles: magnetic resonance imaging findings and surgical treatment.
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
Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy.
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

Prognosis

MRI evaluation of cranial nerve abnormalities and extraocular muscle fibrosis in duane retraction syndrome and congenital extraocular muscle fibrosis.
Yang T, Li X, Wang K, Zhang Q, Hao R, Zhang W
Graefes Arch Clin Exp Ophthalmol 2024 Aug;262(8):2633-2642. Epub 2024 Mar 26 doi: 10.1007/s00417-024-06454-5. PMID: 38530452
Outcome of silicone sling frontalis suspension in children with simple congenital and complex ptosis.
Landau Prat D, Zhao CS, Ramakrishnan M, Revere KE, Katowitz WR, Katowitz JA
Can J Ophthalmol 2024 Aug;59(4):264-269. Epub 2023 Jun 24 doi: 10.1016/j.jcjo.2023.06.002. PMID: 37364855
Congenital fibrosis of the extraocular muscles: magnetic resonance imaging findings and surgical treatment.
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
Phenotype-genotype correlation in two patients with 12q proximal deletion.
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

Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness.
Liberton DK, Almpani K, Mishra R, Bassim C, Van Ryzin C, On Behalf Of The Moebius Syndrome Research Consortium, Webb BD, Jabs EW, Engle EC, Collins FS, Manoli I, Lee JS
Int J Environ Res Public Health 2024 May 13;21(5) doi: 10.3390/ijerph21050615. PMID: 38791829Free PMC Article
The Frequency and Manifestations of Ocular Causes of Abnormal Head Posture.
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
KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3.
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
Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients.
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
Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12.
Engle EC, Marondel I, Houtman WA, de Vries B, Loewenstein A, Lazar M, Ward DC, Kucherlapati R, Beggs AH
Am J Hum Genet 1995 Nov;57(5):1086-94. PMID: 7485159Free PMC Article

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