Surgically mismanaged ptosis in a patient with congenital fibrosis of the extraocular muscles type I
نویسندگان
چکیده
منابع مشابه
Anterior uveitis and congenital fibrosis of the extraocular muscles in a patient with Noonan syndrome.
We describe a patient with Noonan syndrome who presented with Human Leukocyte Antigen B27-associated recurrent acute anterior uveitis and manifestations of congenital fibrosis of the extraocular muscles, which has not been reported before.
متن کاملLong-term outcome of strabismus and ptosis surgery in a mother and daughter with congenital fibrosis of extraocular muscles.
BACKGROUND Congenital fibrosis of extraocular muscles (CFEOM) is a very rare congenital condition, characterized by variable amounts of restriction of the extraocular muscles, with or without ptosis. The aim of this report was to describe a severe, atypical, exposure-induced corneal stromal lysis in two patients. CASE REPORT A mother and a daughter with a severe CFEOM were presented. The surg...
متن کاملNeurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A.
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...
متن کاملNovel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3.
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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ژورنال
عنوان ژورنال: Middle East African Journal of Ophthalmology
سال: 2012
ISSN: 0974-9233
DOI: 10.4103/0974-9233.102764