congenital fibrosis of the extraocular muscles

con·gen·i·tal fi·bro·sis of the ex·tra·oc·u·lar mus·cles

[MIM*135700]
an autosomal dominant disorder associated with blepharoptosis and absence of eye movements.
Farlex Partner Medical Dictionary © Farlex 2012
References in periodicals archive ?
Congenital Fibrosis of the Extraocular Muscles (CFEOM) is characterized by congenital non-progressive ophthalmoplegia with or without ptosis affecting part or all of the oculomotor and/or the trochlear nucleus with its related nucleus and nerve (1).
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
Clinical characteristics of a KIF21A mutation in a Chinese family with congenital fibrosis of the extraocular muscles type 1.
Congenital fibrosis of the extraocular muscles; a report of six cases.
Phenotypic heterogeneity may occur in congenital fibrosis of the extraocular muscles. Br J Ophthalmol.
Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia.
The optic nerve head in congenital fibrosis of the extraocular muscles. Ophthalmic Genet.
Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3.
Dissociated vertical deviation in congenital fibrosis of the extraocular muscles. Graefes Arch Clin Exp Ophthalmol.
Surgically mismanaged ptosis in a patient with congenital fibrosis of the extraocular muscles type I.
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