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Review

Congenital Fibrosis of the Extraocular Muscles Overview

Mary C Whitman  1 , Julie A Jurgens  2 , David G Hunter  3 , Elizabeth C Engle  4   5
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
Affiliations
Free Books & Documents
Review

Congenital Fibrosis of the Extraocular Muscles Overview

Mary C Whitman et al.
Free Books & Documents

Excerpt

The purpose of this overview is to:

  1. 1

    Describe the clinical characteristics of congenital fibrosis of the extraocular muscles (CFEOM);

  2. 2

    Review the genetic causes of CFEOM;

  3. 3

    Review the disorders to consider the differential diagnosis of CFEOM;

  4. 4

    Provide an evaluation strategy to identify the genetic cause of CFEOM in a proband (when possible);

  5. 5

    Review management of CFEOM;

  6. 6

    Inform genetic counseling of family members of an individual with CFEOM.

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References

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    1. Cederquist GY, Luchniak A, Tischfield MA, Peeva M, Song Y, Menezes MP, Chan WM, Andrews C, Chew S, Jamieson RV, Gomes L, Flaherty M, Grant PE, Gupta ML Jr, Engle EC. An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. Hum Mol Genet. 2012;21:5484–99. - PMC - PubMed
    1. Chew S, Balasubramanian R, Chan WM, Kang PB, Andrews C, Webb BD, MacKinnon SE, Oystreck DT, Rankin J, Crawford TO, Geraghty M, Pomeroy SL, Crowley WF Jr, Jabs EW, Hunter DG, Grant PE, Engle EC. A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3. Brain. 2013;136:522–35. - PMC - PubMed
    1. Demer JL, Clark RA, Engle EC. Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A. Invest Ophthalmol Vis Sci. 2005;46:530–9. - PubMed
    1. Demer JL, Clark RA, Tischfield MA, Engle EC. Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations. Invest Ophthalmol Vis Sci. 2010;51:4600–11. - PMC - PubMed

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