×

Please Remove Adblock
Adverts are the main source of Revenue for DoveMed. Please remove adblock to help us create the best medical content found on the Internet.

Congenital Fibrosis of the Extraocular Muscles

Last updated Aug. 14, 2018

Approved by: Krish Tangella MD, MBA, FCAP

Congenital Fibrosis of the Extraocular Muscles (CFEOM) is a rare disorder that affects the eyes. In this congenital condition, there is an inability to move the eyes in certain directions.


What are the other Names for this Condition? (Also known as/Synonyms)

  • CFEOM (Congenital Fibrosis of the Extraocular Muscles)
  • Congenital Fibrosis Syndrome

What is Congenital Fibrosis of the Extraocular Muscles? (Definition/Background Information)

  • Congenital Fibrosis of the Extraocular Muscles (CFEOM) is a rare disorder that affects the eyes. In this congenital condition, there is an inability to move the eyes in certain directions
  • A family history of the disorder can increase the risk for Congenital Fibrosis of the Extraocular Muscles. It is caused by the inheritance of either autosomal dominant or autosomal recessive genes
  • Congenital Fibrosis of the Extraocular Muscles leads to common signs and symptoms such as limited eye movement and ptosis (drooping upper eyelid). One’s daily routine tasks may be interrupted due to visual defects associated with the condition
  • A healthcare professional can diagnose the condition through medical history evaluation, physical examination of the eye, and molecular genetic testing. Upon diagnosis, treatment may be provided that include prescription eyeglasses and surgical procedures, as necessary
  • The prognosis of Congenital Fibrosis of the Extraocular Muscles depends on the severity of the signs symptoms. Milder symptoms can lead to a better prognosis in comparison to severe disorder

There are 4 types of CFEOM and they include:

  • Congenital Fibrosis of the Extraocular Muscles (CFEOM) Type 1
  • Congenital Fibrosis of the Extraocular Muscles (CFEOM) Type 2
  • Congenital Fibrosis of the Extraocular Muscles (CFEOM) Type 3
  • Tukel Syndrome

Who gets Congenital Fibrosis of the Extraocular Muscles? (Age and Sex Distribution)

  • Congenital Fibrosis of the Extraocular Muscles is a rare condition that is present at birth. It will show signs and symptoms throughout one’s life
  • The condition can affect both the male and female genders
  • All races and ethnicities are at risk and no preference is noted

What are the Risk Factors for Congenital Fibrosis of the Extraocular Muscles? (Predisposing Factors)

  • A family history of Congenital Fibrosis of the Extraocular Muscles increases the risk for the condition

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one's chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Congenital Fibrosis of the Extraocular Muscles? (Etiology)

There are 4 forms of Congenital Fibrosis of the Extraocular Muscles and the nature of their cause is described below:

  • CFEOM type 1 and type 3 are caused by the inheritance of specific autosomal dominant genes. The dominant forms of CFEOM require only a single copy of a mutated gene to display symptoms
  • CFEOM type 2 and Tukel Syndrome are caused by the inheritance of specific autosomal recessive genes. The recessive forms of CFEOM require two copies of the mutated gene to display symptoms

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children, born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Congenital Fibrosis of the Extraocular Muscles?

Signs and symptoms of Congenital Fibrosis of the Extraocular Muscles include:

  • Limited vertical and horizontal eye movement
  • Ptosis (droopy eyelids)
  • Eyes that appear to be in an abnormal position

How is Congenital Fibrosis of the Extraocular Muscles Diagnosed?

  • Diagnosis of Congenital Fibrosis of the Extraocular Muscles is done through a physical examination of the eye. Additionally, a family history of the condition may be evaluated
  • A healthcare provider will look for eye misalignment, the range of motion of the eye, eye opening size, as well as movement of the eye, when diagnosing CFEOM
  • Molecular genetic testing can be used to identify the specific genes that are involved

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Congenital Fibrosis of the Extraocular Muscles?

Complications for Congenital Fibrosis of the Extraocular Muscles include trouble performing routine/daily tasks due to vision defects.

How is Congenital Fibrosis of the Extraocular Muscles Treated?

The treatment for Congenital Fibrosis of the Extraocular Muscles may include:

  • Eye glasses to treat eye focus issues
  • Surgical procedures to fix eye misalignment and drooping upper eyelids (ptosis)

The surgical procedures adopted will be specific to each individual, based on their signs and symptoms.

How can Congenital Fibrosis of the Extraocular Muscles be Prevented?

  • Currently, there are no specific methods or guidelines to prevent Congenital Fibrosis of the Extraocular Muscles, since it is a genetic condition
  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders such as Congenital Fibrosis of the Extraocular Muscles
  • Regular medical screening at periodic intervals with tests, scans and physical examinations are mandatory

What is the Prognosis of Congenital Fibrosis of the Extraocular Muscles? (Outcomes/Resolutions)

  • The prognosis of Congenital Fibrosis of the Extraocular Muscles depends on the severity of the signs and symptoms
  • Severe forms of CFEOM may inhibit daily activities and are generally harder to treat
  • Mild forms of CFEOM can be treated more easily to prevent interference with daily activities. The prognosis in such cases is much better

Additional and Relevant Useful Information Congenital Fibrosis of the Extraocular Muscles:

Please visit our Eye & Vision Health Center for more physician-approved health information:

http://www.dovemed.com/health-topics/vision-center/

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Aug. 1, 2016
Last updated: Aug. 14, 2018