Congenital fibrosis of the extraocular muscles

Definition:

Congenital fibrosis of the extraocular muscles (CFEOM) describes a group of rare congenital eye movement disorders that result from the dysfunction of all or part of the oculomotor (CN 3) and the trochlear (CN 4) nerves, and/or the muscles these nerves innervate. CFEOM is characterized by non-progressive, restrictive ophthalmoplegia of the extraocular muscles and congenital blepharoptosis. Several clinical phenotypes for familial CFEOM have been delineated.

References:

[1]. Gena Heidary, et al. Congenital fibrosis of the extraocular muscles. Semin Ophthalmol. 2008 Jan-Feb;23(1):3-8. [Content Brief]

[2]. Jameela M A Shinwari, et al. Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder. Am J Hum Genet. 2015 Jan 8;96(1):147-52. [Content Brief]

[3]. Max A Tischfield, et al. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell. 2010 Jan 8;140(1):74-87. [Content Brief]

[4]. Pascale Cooymans, et al. Congenital fibrosis of the extraocular muscles. Oman J Ophthalmol. 2010 May;3(2):70-4. [Content Brief]

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