Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence

Clinical Features

Congenital ocular fibrosis syndrome is a hereditary ocular motility disorder in which restrictive ophthalmoplegia and blepharoptosis are associated with replacement of orbital striated muscle by fibrous tissue (see CFEOM1; 135700). Brodsky et al. (1989) reported a child with congenital ocular fibrosis and oculocutaneous hypopigmentation who also manifested 2 neural misdirection syndromes: synergistic divergence and Marcus Gunn jaw winking. The authors hypothesized that a primary developmental defect involving the establishment of normal neuronal connections might be responsible for this congenital fibrosis syndrome.

Brodsky (1998) reported 3 patients, including the patient reported by Brodsky et al. (1989), who had congenital fibrosis syndrome and a variant of synergistic divergence characterized by simultaneous abduction with intorsion and depression of the synkinetically abducting eye. These patients had a variant of Marcus Gunn jaw winking characterized by elevation of a ptotic eyelid during mouth opening. All 3 patients also had exotropia with their eyes fixed in downgaze, and they showed oculocutaneous hypopigmentation. The mother of one patient was reported to be affected but was unavailable for examination, whereas the mother of another patient was affected and described. Brodsky (1998) concluded that the patterns of neuronal misdirection implicated a regional innervational disturbance involving cranial nerves III through VI as the underlying case of diffuse hereditary ophthalmoplegia in these patients.

Kim and Hwang (2005) described the neuropathologic findings in 2 patients with congenital fibrosis and synergistic divergence using magnetic resonance imaging (MRI). MRI showed bilateral hypoplasia of the oculomotor nerve and absence of the abducens nerve on the affected side of synergistic divergence. The oculomotor and abducens nerves were observed in 80 of 80 control eyes.