Congenital Fibrosis of the Extraocular Muscles Overview

Mary C Whitman; Julie A Jurgens; David G Hunter; Elizabeth C Engle

Congenital Fibrosis of the Extraocular Muscles Overview

Review

In: GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.

2004 Apr 27 [updated 2021 Aug 12].

Authors

Mary C Whitman¹, Julie A Jurgens², David G Hunter³, Elizabeth C Engle^{4

5}

Book Editors

Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Lora JH Bean, Karen W Gripp, Anne Amemiya

Affiliations

¹ Department of Ophthalmology, Boston Children's Hospital;, Assistant Professor of Ophthalmology, Harvard Medical School, Boston, Massachusetts
² Department of Neurology, Boston Children’s Hospital;, Department of Neurology, Harvard Medical School, Boston, Massachusetts
³ Ophthalmologist-in-Chief, Boston Children's Hospital, Professor of Ophthalmology, Harvard Medical School, Boston, Massachusetts
⁴ Department of Neurology, Boston Children's Hospital;, Professor of Neurology and Ophthalmology, Harvard Medical School, Boston, Massachusetts
⁵ Howard Hughes Medical Institute, Chevy Chase, Maryland

PMID: 20301522
Bookshelf ID: NBK1348

Excerpt

The purpose of this overview is to increase the awareness of clinicians regarding the genetic causes and management of congenital fibrosis of the extraocular muscles (CFEOM).

The following are the goals of this overview.

Goal 1: Describe the clinical characteristics of CFEOM.

Goal 2: Review the genetic causes of CFEOM.

Goal 3: Review the disorders to consider the differential diagnosis of CFEOM

Goal 4: Provide an evaluation strategy to identify the genetic cause of CFEOM in a proband (when possible).

Goal 5: Inform genetic counseling of family members of an individual with CFEOM.

Goal 6: Review management of CFEOM.

Sections

Publication types

Review