Hereditary external ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation: A congenital fibrosis syndrome caused by deficient innervation to extraocular muscles

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Background The congenital fibrosis syndrome is a hereditary form of external ophthalmoplegia that is considered to be a primary myopathy. Purpose To document the coexistence of two distinct forms of ocular motor synkinesis in a subgroup of patients with congenital fibrosis syndrome. Methods Clinical and intraoperative examination results and extraocular muscle biopsy specimens from four patients with congenital fibrosis syndrome were studied. Results Three patients displayed a variant of synergistic divergence characterized by simultaneous abduction with intorsion and depression of the synkinetically abducting eye. Three patients had variant of Marcus Gunn jaw winking characterized by elevation of a ptotic eyelid during mouth opening. Three patients had oculocutaneous hypopigmentation. Conclusions A subgroup of patients with congenital fibrosis syndrome display two distinct synkinetic ocular movements in conjunction with oculocutaneous hypopigmentation. The patterns of neuronal misdirection implicate a regional innervational disturbance involving cranial nerves III through VI as the underlying cause of diffuse hereditary ophthalmoplegia in these patients.