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Congenital Fibrosis of Extraocular Muscles (CFEOM)
Strabismus
Key Points
- •CFEOM is a congenital, non-progressive cranial dysinnervation disorder - the fibrosis is secondary to chronic denervation of EOMs, not a primary muscular disease; MRI shows absent/hypoplastic CN III
- •Gene-phenotype correlations: CFEOM1 = KIF21A (AD, bilateral ptosis + restricted upgaze); CFEOM2 = PHOX2A/ARIX (AR, total ophthalmoplegia, most severe); CFEOM3 = TUBB3 (AD, variable, intellectual disability mutation-dependent)
- •CFEOM is non-progressive (present from birth, does not worsen) - this is the key distinction from CPEO (progressive mitochondrial myopathy) and myasthenia gravis (fluctuating, acquired)
- •Frontalis sling is the surgery of choice for CFEOM ptosis - levator function is absent; standard levator surgery fails. Early surgery (1–2 years) prevents deprivation amblyopia
- •Forced duction test is always positive in CFEOM due to secondary fibrosis of denervated muscles - do not mistake this for a primary restrictive myopathy
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17 more sections are included with the Clinical plan.
- Definition
- Epidemiology
- Aetiology and causes
- Pathogenesis
- Classification
- Risk factors and associations