Mutant α2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome
نویسندگان
چکیده
منابع مشابه
Mutant α2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome.
Duane retraction syndrome (DRS) is the most common form of congenital paralytic strabismus in humans and can result from α2-chimaerin (CHN1) missense mutations. We report a knockin α2-chimaerin mouse (Chn1KI/KI) that models DRS. Whole embryo imaging of Chn1KI/KI mice revealed stalled abducens nerve growth and selective trochlear and first cervical spinal nerve guidance abnormalities. Stalled ab...
متن کاملDuane retraction syndrome in a Nigerian child
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...
متن کاملProperties of saccades in Duane retraction syndrome.
PURPOSE To improve understanding of the binocular control of saccades by making high-resolution eye movement recordings in patients with unilateral Duane retraction syndrome (DRS) type I (marked by congenital absence of the sixth cranial nerve). METHODS Binocular eye movements were recorded in four patients in binocular viewing conditions during a saccade task. RESULTS Affected-side gaze sh...
متن کاملSurgical Planning for Duane Retraction Syndrome
Duane retraction syndrome comprises a group of motility disturbances in which the common feature is co-contraction of medial and lateral rectus muscles on attempted adduction of the involved eye(s). Abnormal clinical features associated with DRS include horizontal deviation in primary position, abnormal head position, retraction of the globe on attempted adduction leading to pseudoptosis, up sh...
متن کاملSurgical treatment of Duane retraction syndrome
Purpose Surgical treatment in Duane retraction syndrome (DRS) can be very challenging even for the strabismus specialists because of a wide spectrum of diversity in clinical manifestations. The purpose of this article is to review these different surgical treatments. Methods A comprehensive search was performed using PubMed database with the different keywords of "Duane retraction syndrome" a...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 2017
ISSN: 0021-9738,1558-8238
DOI: 10.1172/jci88502