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 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 19 Issue: 6
  • Publication Date: 2015
  • Doi Number: 10.1016/j.ejpn.2015.06.003
  • Journal Name: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.743-746
  • Keywords: KIF21A, Marcus Gunn jaw-winking, phenomenon, CFEOM1
  • Dokuz Eylül University Affiliated: No

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.