Two Novel CHN1 Mutations in 2 Families With Duane Retraction Syndrome
نویسندگان
چکیده
منابع مشابه
Two novel CHN1 mutations in 2 families with Duane retraction syndrome.
OBJECTIVE To determine the genetic cause of Duane retraction syndrome (DRS) in 2 families segregating DRS as a dominant trait. METHODS Members of 2 unrelated pedigrees were enrolled in a genetic study. Linkage analysis was performed on the CHN1 locus. Probands and family members were screened for CHN1 mutations. RESULTS The 6 affected individuals in the 2 pedigrees have DRS. Both pedigrees ...
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PURPOSE Neuroimaging findings in Duane's retraction syndrome (DRS), through magnetic resonance imaging (MRI), suggest that aplasia of the abducens nerve (VI) can be responsible for several forms of DRS. METHODS Brain MRI was performed in two children of 2.5 and 7 years of age with left sided DRS type II and right sided DRS type I, respectively. 3D T2 weighted images through the brainstem were...
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We report a case of a four year old Nigerian girl who presented to the paediatric unit of our eye clinic with complaints of a squint on looking to the right side and reduction in the size of the right eye when looking to the left. On examination, she had right exotropia in the primary position of gaze. There was limitation of abduction and widening of the palpebral fissure of the right eye on r...
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ژورنال
عنوان ژورنال: Archives of Ophthalmology
سال: 2011
ISSN: 0003-9950
DOI: 10.1001/archophthalmol.2011.84