Daniyar Dauletbekov

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Duane retraction syndrome is a congenital oculomotor disorder characterized by horizontal eye movement limitations with palpebral fissure narrowing and globe retraction on attempted adduction. Recent reports showed the absence of the subarachnoid part of the abducens nerve on magnetic resonance imaging (MRI) in types I and III. We present a case of Duane(More)
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(More)
X-linked retinitis pigmentosa (XLRP) is generally a severe form of retinitis pigmentosa, a neurodegenerative, blinding disorder of the retina. 70% of XLRP cases are due to mutations in the retina-specific isoform of the gene encoding retinitis pigmentosa GTPase regulator (RPGRORF15). Despite successful RPGRORF15 gene replacement with adeno-associated viral(More)
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