Congenital fibrosis of the extraocular muscles (CFEOM)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Congenital fibrosis of the extraocular muscles (CFEOM). This is caused by mutations in the KIF21A gene. Fully referenced neurology checklist.

CFEOM type 1

  • This is caused by mutations in the KIF21A gene
  • The transmission is autosomal dominant
  • It causes bilateral absence of the superior division of the oculomotor nerves

CFEOM type 2

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CFEOM type 3

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Clinical features

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References

  1. Assaf AA. Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs). Eye (Lond) 2011; 25:1251-1261. 
  2. Gutowski NJ, Chilton JK. The congenital cranial dysinnervation disorders. Arch Dis Child 2015; 100:678-681.

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