About Congenital Fibrosis of the Extraocular Muscles

What is Congenital Fibrosis of the Extraocular Muscles?

Congenital Fibrosis of the Extraocular Muscles (CFEOM) is a rare genetic disorder that affects the muscles that control eye movement. It is characterized by limited or absent eye movement, drooping eyelids, and strabismus (crossed eyes). CFEOM is caused by mutations in the KIF21A gene, which is responsible for the development of the extraocular muscles. Treatment typically involves corrective surgery and/or vision therapy.

What are the symptoms of Congenital Fibrosis of the Extraocular Muscles?

The most common symptoms of Congenital Fibrosis of the Extraocular Muscles (CFEOM) are:

• Strabismus (crossed eyes)

• Limited or absent eye movements

• Abnormal head position

• Abnormal eye shape

• Abnormal eyelid position

• Abnormal pupil size

• Abnormal eye movements

• Double vision

• Poor vision

• Nystagmus (involuntary eye movements)

• Abnormal eye alignment

What are the causes of Congenital Fibrosis of the Extraocular Muscles?

Congenital Fibrosis of the Extraocular Muscles (CFEOM) is a rare genetic disorder that affects the muscles that control eye movement. The exact cause of CFEOM is unknown, but it is believed to be caused by a mutation in one of several genes that are involved in the development of the extraocular muscles. Other possible causes include environmental factors, such as exposure to certain toxins or radiation, or a combination of genetic and environmental factors.

What are the treatments for Congenital Fibrosis of the Extraocular Muscles?

1. Surgery: Surgery is the most common treatment for congenital fibrosis of the extraocular muscles (CFEOM). Surgery can be used to release the tight muscles and improve eye movement.

2. Botulinum Toxin Injections: Botulinum toxin injections can be used to relax the tight muscles and improve eye movement.

3. Physical Therapy: Physical therapy can be used to help improve eye movement and coordination.

4. Orthoptic Exercises: Orthoptic exercises can be used to help improve eye movement and coordination.

5. Vision Therapy: Vision therapy can be used to help improve eye movement and coordination.

6. Eyeglasses: Eyeglasses can be used to help improve vision.

What are the risk factors for Congenital Fibrosis of the Extraocular Muscles?

1. Family history of the disorder
2. Maternal diabetes
3. Maternal use of certain medications during pregnancy
4. Maternal exposure to certain environmental toxins
5. Maternal infection during pregnancy
6. Chromosomal abnormalities
7. Genetic mutations

Is there a cure/medications for Congenital Fibrosis of the Extraocular Muscles?

There is no cure for Congenital Fibrosis of the Extraocular Muscles (CFEOM). Treatment typically involves medications to reduce inflammation and improve eye movement, as well as physical therapy to help strengthen the eye muscles. Surgery may also be recommended to improve eye movement.