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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 eye movement disorder present at birth. It is characterized by non-progressive unilateral or bilateral strabismus, which means that one or both eyes do not align properly with each other.

Key Features:

• Rare Genetic Disorder: CFEOM is a congenital cranial dysinnervation disorder (CCDD) that affects the muscles responsible for eye movement.
• Strabismus: Patients with CFEOM experience strabismus, which can be unilateral or bilateral, and is non-progressive in nature.
• Congenital Condition: CFEOM is present at birth and does not worsen over time.

Causes and Risk Factors:

• Genetic Mutation: CFEOM is caused by a genetic mutation that affects the development of the extraocular muscles.
• Inheritance Pattern: The inheritance pattern of CFEOM is complex, but it is believed to be inherited in an autosomal dominant manner.

Symptoms and Diagnosis:

• Strabismus: The primary symptom of CFEOM is strabismus, which can range from mild to severe.
• Eye Movement Disorders: Patients with CFEOM may experience eye movement disorders, such as difficulty moving the eyes in certain directions.
• Diagnosis: CFEOM is diagnosed through a combination of clinical evaluation, imaging studies (e.g., MRI), and genetic testing.

Treatment Options:

• Surgery: Surgery may be necessary to correct strabismus and improve eye alignment.
• Physical Therapy: Physical therapy can help improve eye movement and reduce symptoms.
• Genetic Counseling: Genetic counseling is essential for families with a history of CFEOM, as it can provide information on the risk of passing the condition to future generations.

References:

• [2] Congenital fibrosis of the extraocular muscles (CFEOM) includes at least five rare genetic eye movement disorders present at birth that are characterized by ...
• [3] Oct 22, 2022 — Congenital fibrosis of the extraocular muscles (CFEOM) is a genetic disorder belonging to the congenital cranial dysinnervation disorders ...
• [5] by MD Elizabeth Engle — Congenital Fibrosis of the Extraocular Muscles (CFEOM) is a severe form of strabismus with deficits in ocular motility.

Common Signs and Symptoms of Congenital Fibrosis of the Extraocular Muscles (CFEOM)

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.

Key Signs and Symptoms:

• Incomitant Strabismus: Patients with CFEOM experience strabismus, where the eyes do not align properly, resulting in double vision or blurred vision.
• Restrictive Ophthalmoplegia: The muscles that control eye movement are weakened, making it difficult to move the eyes in certain directions.
• Ptosis: Droopy eyelids can occur due to weakness of the levator palpebrae superioris muscle.
• Eye Misalignment: The eyes may be misaligned in primary gaze, with some patients experiencing orthophoria (normal alignment), hypotropia (downward deviation), esotropia (inward deviation), or exotropia (outward deviation).
• Limited Eye Movement: Patients may experience difficulty looking upward, and their side-to-side eye movement may also be limited.

Additional Symptoms:

• Bilateral asymmetry
• Varying degrees of ophthalmoplegia and blepharoptosis (droopy eyelids)
• Mild to severe symptoms can occur

These signs and symptoms are characteristic of CFEOM and can vary in severity depending on the subtype. Early diagnosis and treatment by an eye care professional or a neurologist specializing in congenital cranial dysinnervation disorders are essential for proper management and care.

References:

[1] [2] [3] [4] [5]

Based on the available information, diagnostic tests for Congenital Fibrosis of the Extraocular Muscles (CFEOM) include:

• Genetic testing: Exome-based NextGen sequencing with CNV analysis is a favored approach to diagnose CFEOM. This test can identify genetic mutations associated with the disorder [8].
• Imaging studies: Orbital and cranial magnetic resonance imaging (MRI) can be used to analyze findings in patients with CFEOM [4].

It's worth noting that CFEOM is a clinical diagnosis, and it can be confused with other eye movement disorders if not properly diagnosed. A comprehensive evaluation by an experienced healthcare professional is essential for accurate diagnosis.

References:

[4] - Analyzed findings of orbital and cranial magnetic resonance imaging (MRI) in patients with congenital fibrosis of the extraocular muscles (CFEOM). [8] - Congenital fibrosis of the extraocular muscles (CFEOM) is a genetic disorder belonging to the congenital cranial dysinnervation disorders.

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Differential Diagnoses of Congenital Fibrosis of the Extra-Ocular Muscles (CFEOM)

Congenital fibrosis of the extraocular muscles (CFEOM) is a rare condition that can be confused with several other eye movement disorders. The differential diagnoses for CFEOM include:

• Neurogenic conditions: These include congenital III nerve palsy, partial or complete VI nerve palsy, and chronic progressive external ophthalmoplegia.
• Myogenic conditions: These include neurogenic ptosis, myogenic ptosis, and third cranial nerve (CNIII) palsy.
• Other conditions: These include botulism, mitochondrial causes of epilepsy, and other rare eye movement disorders.

According to a study published in 2013 [5], five patients had third nerve aplasia or hypoplasia, which is compatible with a probable diagnosis of CFEOM. Another study published in 1999 [8] found that congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia) was genetically homogeneous and linked to specific genes.

In terms of clinical findings, CFEOM can be characterized by ophthalmoplegia, limited eye movement, strabismus, and ptosis [6]. The condition can be caused by mutations in genes such as KIF21A, TUBB3, PHOX2A, and TUBB2B.

References:

• [1] CFEOM is a clinical diagnosis and can be confused with several other eye movement disorders, especially if the clinical findings are not carefully evaluated.
• [2] Table 4. Differential diagnoses of CFEOM[3].
• [5] Five patients had third nerve aplasia or hypoplasia, which is compatible with a probable diagnosis of CFEOM in all 10 patients.
• [6] It results in ophthalmoplegia, limited eye movement, strabismus, and ptosis. CFEOM can be caused by mutations in genes like KIF21A, TUBB3, PHOX2A, and TUBB2B.
• [8] Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and ...