What is the management approach for congenital fibrosis of extraocular muscles (CFEOM)?

From the Guidelines

The management of congenital fibrosis of extraocular muscles (CFEOM) primarily involves surgical intervention, as there is no effective medical therapy to reverse the underlying neurological abnormalities. Surgery aims to improve eye alignment, reduce abnormal head positioning, and expand the field of binocular vision. The surgical approach typically involves recession and resection procedures of the affected extraocular muscles, particularly the inferior rectus muscles which are often fibrotic and contracted. Multiple surgeries are frequently required, with the initial procedure often performed between ages 6-12 months if severe ptosis or significant head positioning is present, or later in childhood if symptoms are milder.

According to the most recent guidelines, treatment plans should be formulated in consultation with the parent/caregiver and patient, if appropriate, and should account for the parent’s/caregiver’s and patient’s perception of the existing alignment 1. Ptosis repair may be necessary and is usually performed after strabismus surgery. Amblyopia therapy, including patching of the dominant eye and visual exercises, is an essential component of management, especially in children. Patients require long-term follow-up as recurrent misalignment is common due to the progressive nature of the condition.

Some key considerations in the management of CFEOM include:

• Correction of refractive errors
• Bifocal eyeglasses
• Prism therapy
• Extraocular muscle surgery
• Botulinum toxin injection (I+, Moderate, Discretionary) 1
• Other pharmacologic agents

The surgical management is challenging because the affected muscles have abnormal innervation and mechanical properties, making outcomes less predictable than in other forms of strabismus. Genetic counseling should be offered to affected families, as CFEOM has autosomal dominant inheritance patterns in many cases, with mutations in genes such as KIF21A, PHOX2A, and TUBB3. While other studies discuss the management of strabismus in different contexts, such as in children with neurofibromatosis type 1 1, the primary approach to CFEOM remains surgical intervention to improve eye alignment and expand the field of binocular vision.

From the Research

Management Approach for Congenital Fibrosis of Extraocular Muscles (CFEOM)

The management approach for CFEOM involves a tailored surgical approach to address the unique needs of each patient.

• The goal of surgery is to improve ocular alignment, reduce abnormal head posture, and enhance functional vision 2, 3.
• Patients with CFEOM often require multiple surgeries, with an average of 1.6 surgeries per patient 2.
• The use of temporary or permanent stay sutures may be necessary in some cases to achieve optimal outcomes 2.
• Surgical outcomes can be excellent, good, or poor, depending on the severity of the condition and the individual patient's response to treatment 2, 3.

Surgical Considerations

• CFEOM is a challenging condition to manage surgically due to the presence of extraocular muscle dysinnervation, fibrosis, and/or heterotopia 2, 4.
• A thorough evaluation of the patient's ocular and systemic condition is necessary to determine the best surgical approach 5.
• The choice of surgical procedure depends on the specific subtype of CFEOM, the severity of the condition, and the patient's individual needs 3, 4.

Classification and Diagnosis

• CFEOM is classified into three main subtypes: CFEOM1, CFEOM2, and CFEOM3, based on clinical and genetic characteristics 3, 4.
• Diagnosis is based on a combination of clinical evaluation, imaging studies, and genetic testing 5, 4.
• A comprehensive understanding of the condition's pathophysiology is essential for developing effective management strategies 4.

Outcomes and Prognosis

• Surgical outcomes for CFEOM can be satisfactory, with significant improvement in ocular alignment and reduction in abnormal head posture 2, 3.
• However, the condition is often associated with persistent visual impairment and limited ocular mobility 5, 6.
• Long-term follow-up is necessary to monitor the patient's condition and adjust the management plan as needed 3.