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Magnetic Resonance Imaging Evidence For Widespread Orbital Dysinnervation in Congenital Fibrosis of Extraocular Muscles Due to Mutations in KIF21A

By Joseph L. Demer, Robert A. Clark and Elizabeth C. Engle


PURPOSE. High-resolution orbital magnetic resonance imaging (MRI) was used to investigate the structural basis of ocular motility abnormalities in humans with congenital fibrosis of the extraocular muscles type 1 (CFEOM1) due to missense mutations in the developmental kinesin KIF21A. METHODS. Clinical ophthalmic and motility findings in 19 volunteers from six unrelated CFEOM1 pedigrees harboring four of the six reported KIF21A mutations and 23 normal control subjects were correlated with MRI studies demonstrating extraocular muscle (EOM) size, location, contractility, and innervation. RESULTS. Subjects with CFEOM1 had severe bilateral blepharoptosis, limited supraduction, and variable ophthalmoplegia. In affected subjects, MRI demonstrated atrophy of the levator palpebrae superioris and superior rectus EOMs and small or absent orbital motor nerves. The oculomotor nerv

Year: 2013
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