Literature DB >> 2760786

Neural misdirection in congenital ocular fibrosis syndrome: implications and pathogenesis.

M C Brodsky1, S C Pollock, E G Buckley.   

Abstract

A child with congenital ocular fibrosis syndrome and oculocutaneous albinism displayed two distinct neural misdirection syndromes: synergistic divergence and Marcus Gunn jaw winking. This and other reported cases of misdirected innervation in patients with congenital fibrosis syndrome suggest that normal neuronal connections fail to become established early in development and that lack of innervation may underlie the pathologic features of the disorder. The prevailing concept of congenital fibrosis syndrome as a primary myopathy should be reconsidered.

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Year:  1989        PMID: 2760786     DOI: 10.3928/0191-3913-19890701-03

Source DB:  PubMed          Journal:  J Pediatr Ophthalmol Strabismus        ISSN: 0191-3913            Impact factor:   1.402


  9 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.  Progressive restrictive strabismus acquired in infancy.

Authors:  C Souza-Dias; A B Scott; A-H Wang
Journal:  Br J Ophthalmol       Date:  2005-08       Impact factor: 4.638

3.  Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM).

Authors:  G C Black; R Perveen; E Hatchwell; A Reck; J Clayton-Smith
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

Review 4.  Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs).

Authors:  A A Assaf
Journal:  Eye (Lond)       Date:  2011-07-01       Impact factor: 3.775

5.  Absent trochlear and abducens nerves in a patient with congenital fibrosis of extraocular muscles.

Authors:  Hee Kyung Yang; Jae Hyoung Kim; Jeong-Min Hwang
Journal:  Neurol Sci       Date:  2019-11-16       Impact factor: 3.307

6.  X linked dominant congenital isolated bilateral ptosis: the definition and characterisation of a new condition.

Authors:  T F McMullan; A G Tyers
Journal:  Br J Ophthalmol       Date:  2001-01       Impact factor: 4.638

7.  Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy.

Authors:  Key Hwan Lim; Elizabeth C Engle; Joseph L Demer
Journal:  Invest Ophthalmol Vis Sci       Date:  2007-04       Impact factor: 4.799

8.  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

9.  Congenital fibrosis syndrome associated with central nervous system abnormalities.

Authors:  Christina Pieh; Hans Hilmar Goebel; Elizabeth C Engle; Irene Gottlob
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2003-06-18       Impact factor: 3.117

  9 in total

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