Fibrosis of Extraocular Muscles with Synergistic Divergence

Clinical Characteristics
Ocular Features: 

This is an ocular motility disorder with restrictive ophthalmoplegia and anomalous eye movements.  Some individuals exhibit Marcus Gunn jaw winking and downgaze fixation along with ptosis.  MRI imaging may reveal hypoplasia of the oculomotor nerve and absence of the abducens nerve.  Sometimes one or more extraocular muscles are replaced with fibrous tissue.  Globe retraction may accompany the abduction movement.  Forced duction testing may reveal severe restriction and Bell's phenomenon may be absent.  Vertical nystagmus and jerky eye motions may accompany attempted fixation.  There is considerable asymmetry to the extraocular movements of the two eyes. 

Systemic Features: 

Some patients have oculocutaneous hypopigmentation.

Genetics

No specific mutation has been identified.  Several examples of parent to child transmission have been reported suggesting autosomal dominant inheritance.

Other nonsyndromal forms of congenital fibrosis of extraocular muscles include: CFEOM1 (135700), CFEOM2 (602078), CFEOM3C (609384), and CFEOM5 (616219), although the eye movement phenotype may vary.  See also Tukel CFEOM syndrome (609428).

Treatment
Treatment Options: 

Ptosis and strabismus surgery may be of benefit.

References
Article Title: 

References

Kim JH, Hwang JM. Hypoplastic oculomotor nerve and absent abducens nerve in congenital fibrosis syndrome and synergistic divergence with magnetic resonance imaging. Ophthalmology. 2005 Apr;112(4):728-32.

PubMedID: 15808269

Brodsky MC. Hereditary external ophthalmoplegia synergistic divergence, jaw winking, and oculocutaneous hypopigmentation: a congenital fibrosis syndrome caused by deficient innervation to extraocular muscles. Ophthalmology. 1998 Apr;105(4):717-25.

PubMedID: 9544647