National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Congenital fibrosis of extraocular muscles

Congenital fibrosis of extraocular muscles (CFEOM) refers to a group of rare conditions that affect the normal development and function of the muscles that control eye movement and position. In general, people affected by these conditions are unable to move their eyes in certain directions and often have strabismus and/or droopy eyelids (ptosis); however, the severity of the condition and the associated signs and symptoms vary significantly by subtype. CFEOM can be caused by changes (mutations) in several genes, including KIF21A, TUBB3, PHOX2A, and TUBB2B. In some cases, the underlying genetic cause is unknown. CFEOM can be inherited in an autosomal dominant or autosomal recessive manner, depending on the subtype. Treatment is based on the signs and symptoms present in each person.[1][2][3]
Last updated: 3/25/2017

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Congenital fibrosis of extraocular muscles. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Congenital fibrosis of extraocular muscles in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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  1. Mary Whitman, MD, PhD, David G Hunter, MD, PhD, and Elizabeth C Engle, MD. Congenital Fibrosis of the Extraocular Muscles. GeneReviews. January 2016; https://www.ncbi.nlm.nih.gov/books/NBK1348/.
  2. congenital fibrosis of the extraocular muscles. Genetics Home Reference. March 2009; https://ghr.nlm.nih.gov/condition/congenital-fibrosis-of-the-extraocular-muscles#.
  3. Congenital Fibrosis of the Extraocular Muscles. National Organization for Rare Disorders. 2013; https://rarediseases.org/rare-diseases/congenital-fibrosis-of-the-extraocular-muscles/.