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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Magnetic Resonance Imaging Evidence for Widespread Orbital Dysinnervation in Dominant Duane's Retraction Syndrome Linked to the DURS2 Locus.

PURPOSE: High-resolution, multipositional magnetic resonance imaging (MRI) was used to demonstrate extraocular muscles (EOMs) and associated motor nerves in Duane retraction syndrome (DRS) linked to the DURS2 locus on chromosome 2. METHODS: Five male and three female affected members of two autosomal dominant DURS2 pedigrees were enrolled in the study. Coronal T(1)-weighted MRI of the orbits was obtained in multiple gaze positions, as well as with heavy T(2) weighting in the plane of the cranial nerves. MRI findings were correlated with motility. RESULTS: All subjects had unilateral or bilateral limitation of abduction, or of both abduction and adduction, with palpebral fissure narrowing and globe retraction in adduction. Orbital motor nerves were typically small, with the abducens nerve (cranial nerve [CN]6) often nondetectable. Lateral rectus (LR) muscles were structurally abnormal in seven subjects, with structural and motility evidence of oculomotor nerve (CN3) innervation from vertical rectus EOMs leading to A or V patterns of strabismus in three cases. Four cases had superior oblique, two cases superior rectus, and one case levator EOM hypoplasia. Only the medial and inferior rectus and inferior oblique EOMs were spared. Two cases had small CN3s. CONCLUSIONS: DRS linked to the DURS2 locus is associated with bilateral abnormalities of many orbital motor nerves, and structural abnormalities of all EOMs except those innervated by the inferior division of CN3. The LR may be coinnervated by CN3 branches normally destined for any other rectus EOMs. Therefore, DURS2-linked DRS is a diffuse congenital cranial dysinnervation disorder involving but not limited to CN6.[1]


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