Literature DB >> 1565446

Congenital unilateral fibrosis, blepharoptosis, and enophthalmos syndrome.

R W Hertle1, J A Katowitz, T L Young, G E Quinn, M G Farber.   

Abstract

The authors report four cases of the rarest form of the congenital fibrosis syndrome. This disorder is exhibited in infancy as unilateral blepharoptosis, strabismus, limited ductions, globe displacement (enophthalmos and blepharoptosis), and decreased vision, usually due to amblyopia. Forced ductions are positive and surgical exploration confirms anomalous muscle structure. Computed tomography and magnetic resonance imaging studies in these four patients were diagnostically beneficial, showing extraocular muscle and tendinous insertion involvement, and poorly defined intraconal and extraconal masses that had the appearance of scar or inflammatory tissue. All patients had globe displacement. The opposite eye and intracranial contents were normal in all of our patients. Results of histopathologic examination obtained at surgery in three of these patients show replacement of affected structures by fibrous tissue and included the extraocular muscles, orbital fat, Tenon's capsule, and conjunctiva.

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Year:  1992        PMID: 1565446     DOI: 10.1016/s0161-6420(92)31966-9

Source DB:  PubMed          Journal:  Ophthalmology        ISSN: 0161-6420            Impact factor:   12.079


  7 in total

Review 1.  [Congenital fibrosis of extraocular muscles (CFEOM) and other phenotypes of congenital cranial dysinnervation syndromes (CCDD)].

Authors:  Frank Hanisch; Viktoria Bau; Stephan Zierz
Journal:  Nervenarzt       Date:  2005-04       Impact factor: 1.214

2.  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

Review 3.  Congenital cranial dysinnervation disorders.

Authors:  Anupam Singh; P K Pandey; Ajai Agrawal; Sanjeev Kumar Mittal; Kartik Maheshbhai Rana; Chirag Bahuguna
Journal:  Int Ophthalmol       Date:  2016-11-11       Impact factor: 2.031

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.  Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata.

Authors:  Maree P Flaherty; Chandra Balachandran; Robyn Jamieson; Elizabeth C Engle
Journal:  Ophthalmic Genet       Date:  2009-06       Impact factor: 1.803

6.  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

7.  Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing.

Authors:  JaeSang Ko; Hyun Joo Lee; Jin Sung Lee; Jin Sook Yoon
Journal:  Yonsei Med J       Date:  2017-09       Impact factor: 2.759

  7 in total

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