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

¹From the Departments of Ophthalmology and ²Neurology, Jules Stein Eye Institute, and the ³Bioengineering and ⁴Neuroscience Interdepartmental Programs, University of California, Los Angeles, California; the ⁵Department of Ophthalmology, College of Medicine, Ewha Womans University, Seoul, Korea; ⁶Programs in Genomics and ⁷Department of Neurology, Children’s Hospital, Boston, Massachusetts; and ⁸Department of Neurology and ⁹Program in Neuroscience, Harvard Medical School, Boston, Massachusetts.

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 T₁-weighted MRI of the orbits was obtained in multiple gaze positions, as well as with heavy T₂ 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.

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				J. L. Demer, R. A. Clark, K. H. Lim, and E. C. Engle Magnetic Resonance Imaging of Innervational and Extraocular Muscle Abnormalities in Duane-Radial Ray Syndrome Invest. Ophthalmol. Vis. Sci., December 1, 2007; 48(12): 5505 - 5511. [Abstract] [Full Text] [PDF]

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