Literature DB >> 3870953

Ocular congenital fibrosis syndrome.

P Nemet1, V Godel, S Ron, M Lazar.   

Abstract

The symptomatology of congenital fibrosis of extraocular muscles, markedly restricted eye movements, blepharoptosis and chin elevation were found in 10 individuals and three generations of one family. The mode of inheritance is compatible with a variable expressive dominant trait. Our experience with the surgical management of the condition using more aggressive procedures than currently employed is described.

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Year:  1985        PMID: 3870953

Source DB:  PubMed          Journal:  Metab Pediatr Syst Ophthalmol (1985)        ISSN: 0882-889X


  1 in total

1.  Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12.

Authors:  E C Engle; I Marondel; W A Houtman; B de Vries; A Loewenstein; M Lazar; D C Ward; R Kucherlapati; A H Beggs
Journal:  Am J Hum Genet       Date:  1995-11       Impact factor: 11.025

  1 in total

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