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. 1998 Jun;82(6):676–679. doi: 10.1136/bjo.82.6.676

Phenotypic heterogeneity may occur in congenital fibrosis of the extraocular muscles

A Reck 1, R Manners 1, E Hatchwell 1
PMCID: PMC1722617  PMID: 9797671

Abstract

BACKGROUND/AIMS—Congenital fibrosis of the extraocular muscles (CFEOM) is an autosomal dominant, non-progressive disorder characterised by congenital ptosis and external ophthalmoplegia. CFEOM has previously been divided into several clinical entities; general fibrosis syndrome, strabismus fixus, vertical retraction syndrome, and congenital fibrosis of the inferior rectus. The purpose of this study was to identify families with CFEOM in this geographical region in order to perform a study of the clinical presentation of this disorder and to estimate its minimum prevalence in the population.
METHODS—Four families were identified with CFEOM in the Wessex region from whom a full history with a pedigree was obtained. All individuals underwent ophthalmological examination.
RESULTS/CONCLUSION—This study shows that several of the CFEOM entities can be present within one family suggesting that these are variants of the same condition. It is suggested that subclassification is, therefore, not appropriate. The minimum prevalence of this disorder was found to be 1/230 000

 Keywords: congenital fibrosis; extraocular muscles; phenotypic heterogeneity

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Figure 1  .

Figure 1  

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Pedigrees of four families with congenital fibrosis of extraocular muscles, consistent with autosomal dominant inheritance, although there are no instances of male to male transmission.

Figure 2  .

Figure 2  

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Case 2.1. 

Figure 3  .

Figure 3  

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Case 2.2. 

Figure 4  .

Figure 4  

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Case 2.3. 

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Apt L., Axelrod R. N. Generalized fibrosis of the extraocular muscles. Am J Ophthalmol. 1978 Jun;85(6):822–829. doi: 10.1016/s0002-9394(14)78112-7. [DOI] [PubMed] [Google Scholar]
  2. Chapin C. V. Communicable disease control. Am J Public Health. 1973 Jun;63(6):476–476. doi: 10.2105/ajph.63.6.476-b. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Engle E. C., Kunkel L. M., Specht L. A., Beggs A. H. Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Nat Genet. 1994 May;7(1):69–73. doi: 10.1038/ng0594-69. [DOI] [PubMed] [Google Scholar]
  4. Engle E. C., Marondel I., Houtman W. A., de Vries B., Loewenstein A., Lazar M., Ward D. C., Kucherlapati R., Beggs A. H. Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12. Am J Hum Genet. 1995 Nov;57(5):1086–1094. [PMC free article] [PubMed] [Google Scholar]
  5. Gillies W. E., Harris A. J., Brooks A. M., Rivers M. R., Wolfe R. J. Congenital fibrosis of the vertically acting extraocular muscles. A new group of dominantly inherited ocular fibrosis with radiologic findings. Ophthalmology. 1995 Apr;102(4):607–612. doi: 10.1016/s0161-6420(95)30977-3. [DOI] [PubMed] [Google Scholar]
  6. HOLMES W. J. Hereditary congenital ophthalmoplegia. Trans Am Ophthalmol Soc. 1955;53:245-50; discussion, 250-3. [PMC free article] [PubMed] [Google Scholar]
  7. Hansen E. Congenital general fibrosis of the extraocular muscles. Acta Ophthalmol (Copenh) 1968;46(3):469–476. doi: 10.1111/j.1755-3768.1968.tb02831.x. [DOI] [PubMed] [Google Scholar]
  8. Harley R. D., Rodrigues M. M., Crawford J. S. Congenital fibrosis of the extraocular muscles. J Pediatr Ophthalmol Strabismus. 1978 Nov-Dec;15(6):346–358. doi: 10.3928/0191-3913-19781101-04. [DOI] [PubMed] [Google Scholar]
  9. Hupp S. L., Williams J. P., Curran J. E. Computerized tomography in the diagnosis of the congenital fibrosis syndrome. J Clin Neuroophthalmol. 1990 Jun;10(2):135–139. [PubMed] [Google Scholar]
  10. LAUGHLIN R. C. Congenital fibrosis of the extraocular muscles; a report of six cases. Am J Ophthalmol. 1956 Mar;41(3):432–438. doi: 10.1016/0002-9394(56)91259-4. [DOI] [PubMed] [Google Scholar]
  11. Tandon R. K., Burke J. P., Strachan I. M. Unilateral congenital fibrosis syndrome presenting with hypertropia. Acta Ophthalmol (Copenh) 1993 Dec;71(6):860–862. doi: 10.1111/j.1755-3768.1993.tb08617.x. [DOI] [PubMed] [Google Scholar]
  12. VILLASECA A. Strabismus fixus. Am J Ophthalmol. 1959 Dec;48:751–762. doi: 10.1016/0002-9394(59)90618-x. [DOI] [PubMed] [Google Scholar]
  13. Von Noorden G. K. Congenital hereditary ptosis with inferior rectus fibrosis. Report of two cases. Arch Ophthalmol. 1970 Mar;83(3):378–380. doi: 10.1001/archopht.1970.00990030378017. [DOI] [PubMed] [Google Scholar]

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