Congenital fibrosis of the extraocular muscles (CFEOM)

Evidence-based neurology checklist on congenital fibrosis of the extraocular muscles (cfeom): 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 CFEOM type 3…

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

CFEOM type 3

Clinical features

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.
  3. And 0 more. Subscribe to see the full list

Related checklists

    Loading...