Selective aplasia of global fibres of all extraocular muscles in congenital fibrosis of extraocular muscles (CFEOM): a rare presentation
نویسندگان
چکیده
منابع مشابه
Surgical management of hypotropia in congenital fibrosis of extraocular muscles (CFEOM) presented by pseudoptosis
PURPOSE To describe the demographics, characteristics, management pitfalls, and outcomes of pseudoptosis associated with congenital fibrosis of the extraocular muscles (CFEOM). METHODS A retrospective review was performed of eight patients presenting with ptosis and hypotropia to oculoplastic service. All patients underwent full ocular evaluation and magnetic resonance imaging of brain and or...
متن کاملKIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM)
PURPOSE Two Chinese families (XT and YT) with congenital fibrosis of the extraocular muscles (CFEOM) were identified. The purpose of this study was to determine if previously described Homo sapiens kinesin family member 21A (KIF21A) mutations were responsible for CFEOM in these two Chinese pedigrees. METHODS Clinical characterization and genetic studies were performed. Microsatellite genotypi...
متن کاملNeurophysiology of extraocular muscles.
E. lye movements may be divided grossly into "tonic" and "phasic" movements. Are both of these principal types produced by the same motor nerves and muscle fibers, or are separate systems present that are functionally suited to each of the types of movements? Morphological and physiological studies demonstrate that at least two and possibly three neuromuscular systems are present in eye muscles...
متن کاملAbnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy.
PURPOSE High-resolution magnetic resonance imaging (MRI) can now directly demonstrate innervation to extraocular muscles and quantify optic nerve size. A quantitative MRI technique was developed to study the oculomotor nerve (CN3) and applied to congenital fibrosis of extraocular muscles (CFEOM) and congenital oculomotor palsy. METHODS The subarachnoid portions of the CN3s were imaged with a ...
متن کاملBrain Abnormalities in Congenital Fibrosis of the Extraocular Muscles Type 1: A Multimodal MRI Imaging Study
PURPOSE To explore the possible brain structural and functional alterations in congenital fibrosis of extraocular muscles type 1 (CFEOM1) patients using multimodal MRI imaging. METHODS T1-weighted, diffusion tensor images and functional MRI data were obtained from 9 KIF21A positive patients and 19 age- and gender-matched healthy controls. Voxel based morphometry and tract based spatial statis...
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ژورنال
عنوان ژورنال: BMJ Case Reports
سال: 2017
ISSN: 1757-790X
DOI: 10.1136/bcr-2017-221622