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Congenital Fibrosis of the Extraocular Muscles (CFEOM): A Rare Genetic Disorder

Congenital fibrosis of the extraocular muscles (CFEOM) is a rare genetic syndrome characterized by non-progressive unilateral or bilateral strabismus, which is a condition where the eyes do not align properly. This disorder affects the muscles that move the eyeballs, leading to restrictive ophthalmoplegia, which means that the affected eye cannot move in certain directions.

Key Features of CFEOM

• Rare Genetic Disorder: CFEOM is a genetic disorder belonging to the congenital cranial dysinnervation disorders (CCDDs) [1].
• Non-Progressive Strabismus: The condition is characterized by non-progressive unilateral or bilateral strabismus, which means that the eyes do not align properly and this condition does not worsen over time.
• Restrictive Ophthalmoplegia: CFEOM affects the muscles that move the eyeballs, leading to restrictive ophthalmoplegia, which means that the affected eye cannot move in certain directions [5].
• Congenital Cranial Dysinnervation Disorders (CCDDs): CFEOM is one of the CCDDs, a group of rare genetic disorders affecting the nerves and muscles controlling eye movement [6].

References

[1] Congenital fibrosis of the extraocular muscles (CFEOM) is a rare congenital syndrome characterized by non-progressive unilateral or bilateral strabismus. [Context 1] [2] CFEOM includes at least five rare genetic eye movement disorders present at birth that are characterized by restrictive ophthalmoplegia. [Context 2] [3] Congenital fibrosis of the extraocular muscles (CFEOM) is a genetic disorder belonging to the congenital cranial dysinnervation disorders and is characterized by non-progressive strabismus. [Context 3] [4] CFEOM affects the muscles that move the eyeballs, leading to restrictive ophthalmoplegia. [Context 5] [5] Congenital Fibrosis of the Extraocular Muscles (CFEOM) is a severe form of strabismus with deficits in ocular motility. [Context 5] [6] CFEOM is one of the congenital cranial dysinnervation disorders (CCDDs). [Context 6]

Signs and Symptoms of Congenital Fibrosis of the Extraocular Muscles

Congenital fibrosis of the extraocular muscles (CFEOM) is a rare genetic disorder that affects the normal development and function of the muscles that control eye movement and position. The severity of the condition and the associated signs and symptoms vary significantly by subtype.

Main Signs and Symptoms:

• Incomitant Strabismus: Patients with CFEOM experience strabismus, which is a misalignment of the eyes. This can be either unilateral (one eye) or bilateral (both eyes).
• Restrictive Ophthalmoplegia: The extraocular muscles are affected, leading to limited eye movement.
• Ptosis: Droopy eyelids can occur in some cases, affecting part or all of the oculomotor nucleus and nerve (cranial nerve III) and its innervated muscles.
• Eye Misalignment: The eyes may not be able to move together properly, resulting in a head position that is tilted upwards.

Additional Symptoms:

• Intellectual disability
• Peripheral neuropathy
• Skeletal abnormalities

These symptoms can vary significantly depending on the subtype of CFEOM and individual cases. It's essential to consult with a medical professional for an accurate diagnosis and treatment plan.

References:

• [1] 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. ... the severity of the condition and the associated signs and symptoms vary significantly by subtype. CFEOM can be caused by changes in several genes [11].
• [3] Patients with this congenital, non-progressive disorder have restrictive ophthalmoplegia and eye misalignment, with severe congenital ptosis and a resulting prominent chin-up head position [4].
• [10] Congenital fibrosis of the extraocular muscles (CFEOM) is a rare congenital syndrome characterized by non-progressive unilateral or bilateral restrictive strabismus with or without ptosis [10].

Diagnostic Tests for Congenital Fibrosis of the Extraocular Muscles

Congenital fibrosis of the extraocular muscles (CFEOM) is a rare genetic disorder that affects the movement of the eyes. Diagnosing CFEOM can be challenging, but several diagnostic tests can help confirm the condition.

• Forced Duction Test: This test involves rotating the eye by its extraocular muscles to assess their strength and function. It is recommended to perform this test prior to surgery to identify which extraocular muscles are fibrosed [6].
• Visual Acuity Tests: Visual acuity tests, such as Snellen charts, can help assess the patient's visual ability and detect any abnormalities in eye movement.
• Ocular Alignment Tests: Ocular alignment tests, such as cover-uncover tests, can help assess the alignment of the eyes and detect any strabismus (crossed eyes).
• Ductions and Versions Tests: Ductions and versions tests can help assess the range of motion of the eyes in different directions.
• Cycloplegic Refraction: Cycloplegic refraction is a test that helps to determine the refractive error of the eye, which can be affected in CFEOM patients.

These diagnostic tests are essential in confirming the diagnosis of congenital fibrosis of the extraocular muscles and ruling out other conditions that may present similarly. A comprehensive evaluation by an ophthalmologist or neurologist is recommended to ensure accurate diagnosis and management [11].

References:

• [6] Forced duction (the rotation of the eye by its extraocular muscles) and vision tests are also recommended.
• [11] Learn about diagnosis and specialist referrals for Congenital fibrosis of extraocular muscles.

Current Treatment Options for Congenital Fibrosis of the Extraocular Muscles

While there are no specific drugs that can cure congenital fibrosis of the extraocular muscles (CFEOM), various treatment options are available to manage its symptoms and improve eye movement. However, it's essential to note that these treatments may vary depending on the severity and subtype of CFEOM.

• Surgical interventions: Surgery is often considered a viable option for treating CFEOM, particularly in cases where there is significant ptosis (droopy eyelids) or ophthalmoplegia (inability to move the eyes). The goal of surgery is to improve eye alignment and reduce symptoms. However, surgical outcomes can be unpredictable due to the fibrotic nature of the extraocular muscles [2].
• Modified levator muscle complex suspension procedure: This surgical technique has been shown to be highly

Differential Diagnoses for Congenital Fibrosis of the Extraocular Muscles (CFEOM)

Congenital fibrosis of the extraocular muscles (CFEOM) is a rare condition that can be challenging to diagnose. Here are some differential diagnoses that may be considered:

• Neurogenic Ptosis: This condition involves drooping eyelids due to weakness or paralysis of the nerves controlling eye movement.
• Myogenic Ptosis: Similar to neurogenic ptosis, myogenic ptosis is caused by muscle weakness or paralysis, leading to drooping eyelids.
• Congenital III nerve palsy: A congenital third cranial nerve palsy can cause weakness or paralysis of the extraocular muscles, leading to symptoms similar to CFEOM.
• Partial or complete VI nerve palsy: A partial or complete sixth cranial nerve palsy can also cause weakness or paralysis of the extraocular muscles, leading to symptoms similar to CFEOM.

These differential diagnoses are important to consider when evaluating patients with suspected CFEOM. Accurate diagnosis requires a thorough medical history, physical examination, and diagnostic testing (e.g., imaging studies, electromyography).

References:

• [1] by MD Elizabeth Engle — Differential Diagnosis. CFEOM is a clinical diagnosis and can be confused with several other eye movement disorders, especially if the ...
• [2] by P Cooymans · 2010 · Cited by 20 — Table 4. Differential diagnoses of CFEOM[3]. Neurogenic. Congenital III nerve palsy. Partial or complete VI nerve palsy. Chronic progressive ...
• [3] by AV India · Cited by 1 — Differential Diagnosis List. Congenital Fibrosis of the Extra-Ocular Muscles. Neurogenic Ptosis. Myogenic Ptosis. CNIII palsy. Final Diagnosis.
• [4] by P Merino · 2013 · Cited by 11 — Five patients had third nerve aplasia or hypoplasia. Clinical findings were compatible with a probable diagnosis of CFEOM in all 10 patients.

Note: The above information is based on the search results provided and may not be an exhaustive list of differential diagnoses for CFEOM.