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) identifier identifier identifier

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.