A rare case of congenital fibrosis of extraocular muscle type IA due to KIF2IA mutation with Marcus Gunn jaw-winking phenomenon


BAYRAM A. K. , PER H. , Quon J., CANPOLAT M. , Uelgen E., Dogan H. , ...More

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, vol.19, no.6, pp.743-746, 2015 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 19 Issue: 6
  • Publication Date: 2015
  • Doi Number: 10.1016/j.ejpn.2015.06.003
  • Title of Journal : EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
  • Page Numbers: pp.743-746

Abstract

Background: Congenital fibrosis of the extraocular muscles (CFEOM1) is classically a congenital, non-progressive, restrictive strabismus syndrome characterized by bilateral ptosis and ophthalmoplegia with an infraducted position of the globes. This autosomal dominant syndrome is caused by mutations in the KIF21A gene.