Neural misdirection in congenital ocular fibrosis syndrome: implications and pathogenesis

J Pediatr Ophthalmol Strabismus. Jul-Aug 1989;26(4):159-61. doi: 10.3928/0191-3913-19890701-03.


A child with congenital ocular fibrosis syndrome and oculocutaneous albinism displayed two distinct neural misdirection syndromes: synergistic divergence and Marcus Gunn jaw winking. This and other reported cases of misdirected innervation in patients with congenital fibrosis syndrome suggest that normal neuronal connections fail to become established early in development and that lack of innervation may underlie the pathologic features of the disorder. The prevailing concept of congenital fibrosis syndrome as a primary myopathy should be reconsidered.

Publication types

  • Case Reports

MeSH terms

  • Albinism / complications
  • Blepharoptosis / congenital
  • Eye Diseases / congenital*
  • Eye Movements
  • Fibrosis*
  • Humans
  • Infant
  • Male
  • Muscle Denervation
  • Neuromuscular Junction / pathology
  • Oculomotor Muscles / innervation*
  • Oculomotor Muscles / pathology
  • Ophthalmoplegia / congenital
  • Syndrome