Congenital Fibrosis of the Extraocular Muscles Type 2, an Inherited Exotropic Strabismus Fixus, Maps to Distal 11q13
نویسندگان
چکیده
منابع مشابه
Management of a case of divergent strabismus fixus secondary to a congenital fibrosis of extraocular muscles type 2
A 17-year-old boy presented with a large exotropia with both eyes fixed in an abduction and upgaze, pupillary involvement since childhood. He had mild optic nerve hypoplasia in the right eye and situs inversus of the retinal vessels in the left optic disc. His ocular motility showed restriction of eye movements in all gazes. He was diagnosed with congenital fibrosis of extraocular muscles, type...
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Congenital fibrosis of the extraocular muscles type 2 (CFEOM2) is a complex strabismus syndrome that results from mutations in the homeodomain transcription factor PHOX2A. To define the clinical and neuroimaging features of patients with this autosomal recessive syndrome, we studied 15 patients with genetically defined CFEOM2. All patients underwent full neurological, neuro-ophthalmological and...
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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OBJECTIVE To characterize the disease-causing mutations and associated clinical phenotypes in 5 Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). METHODS Ophthalmic investigations included visual acuity, levator function, documentation of compensatory head position, ocular motility, and slitlamp and fundus examinations. The kinesin family member 21A gene (KIF21A) w...
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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 ...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 1998
ISSN: 0002-9297
DOI: 10.1086/301980