Literature DB >> 12221491

The molecular basis of the congenital fibrosis syndromes.

Elizabeth C Engle1.   

Abstract

The congenital fibrosis syndromes (CFS) are rare inherited strabismus syndromes that present as congenital, nonprogressive ophthalmoplegias with active and passive restriction of globe movement, and include classic and atypical forms of congenital fibrosis of the extraocular muscles (CFEOM) and Duane syndrome (DS). Although historically believed to result from primary extraocular muscle fibrosis, both neuropathologic and genetic studies support the hypothesis that these disorders result from aberrant development of motor nuclei in the midbrain and pons.

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Year:  2002        PMID: 12221491     DOI: 10.1076/stra.10.2.125.8142

Source DB:  PubMed          Journal:  Strabismus        ISSN: 0927-3972


  7 in total

1.  Congenital orbital fibrosis associated with fibrosis of extraocular muscle.

Authors:  YangJun Li; Jing Han; Hong Yan; Jing Li; Dan Wang; Shuang Xu
Journal:  BMJ Case Rep       Date:  2012-08-18

2.  Surgical management of pediatric patients with congenital fibrosis of the extraocular muscles.

Authors:  Yoichi Okita; Akiko Kimura; Mana Okamoto; Osamu Mimura; Fumi Gomi
Journal:  Jpn J Ophthalmol       Date:  2019-12-17       Impact factor: 2.447

Review 3.  Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance.

Authors:  Mary C Whitman; Elizabeth C Engle
Journal:  Hum Mol Genet       Date:  2017-08-01       Impact factor: 6.150

4.  Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements.

Authors:  Elias I Traboulsi
Journal:  Trans Am Ophthalmol Soc       Date:  2004

5.  Clinical and surgical data of affected members of a classic CFEOM I family.

Authors:  Adriano Magli; Teresa de Berardinis; Fabiana D'Esposito; Vincenzo Gagliardi
Journal:  BMC Ophthalmol       Date:  2003-04-17       Impact factor: 2.209

6.  Ocular Motor Nerve Development in the Presence and Absence of Extraocular Muscle.

Authors:  Suzanne M Michalak; Mary C Whitman; Jong G Park; Max A Tischfield; Elaine H Nguyen; Elizabeth C Engle
Journal:  Invest Ophthalmol Vis Sci       Date:  2017-04-01       Impact factor: 4.799

7.  KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3.

Authors:  Jingchang Chen; Qingqing Ye; Daming Deng; Jianhua Yan; Houbian Lin; Tao Shen; Ying Lin
Journal:  Mol Med Rep       Date:  2016-08-11       Impact factor: 2.952

  7 in total

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