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Magnetic Resonance Imaging of Innervational and Extraocular Muscle Abnormalities in Duane-Radial Ray Syndrome

¹From the Department of Ophthalmology and Jules Stein Eye Institute, and ²Departments of Neurology, 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 Department of Neurology, Children’s Hospital, Boston, Massachusetts; and the ⁷Department of Neurology, Harvard Medical School, Boston, Massachusetts.

PURPOSE. The authors used magnetic resonance imaging (MRI) to study extraocular muscles (EOMs) and nerves in Duane-radial ray (Okihiro) syndrome (DRRS) caused by mutations in the transcription factor SALL4.

METHODS. The authors examined four male and two female affected members of a pedigree previously reported to cosegregate DRRS and a heterozygous SALL4 mutation. Coronal T1-weighted magnetic resonance images of the orbits and heavily T2-weighted images in the plane of the cranial nerves were obtained in four subjects. MRI findings were correlated with motility examinations and published norms obtained using identical technique.

RESULTS. Five of the six subjects with DRRS had radial ray abnormalities including thumb, radial artery, radial bone, and pectoral muscle hypoplasia. Three had bilateral and three had unilateral ocular involvement. Seven eyes had limitation of both abduction and adduction, whereas two had limitations only of abduction. Most affected eyes had lid fissure narrowing and retraction in adduction. Intraorbital and intracranial abducens nerves (CN6) were small to absent, particularly ipsilateral to abduction deficiency. All subjects undergoing MRI had normal intracranial oculomotor nerves (CN3). Optic nerve (ON) cross-section findings were similar to normal. EOMs and pulleys were structurally normal in most subjects. In some affected orbits, a branch of CN3 closely approximated and presumably innervated the LR.

CONCLUSIONS. DRRS encompasses a Duane syndrome phenotype, with a variable and asymmetric endophenotype including marked CN6 hypoplasia and probable innervation or coinnervation of the LR by CN3. This endophenotype is more limited than reported in DURS2-linked Duane syndrome (On-line Mendelian Inheritance in Man, OMIM 604356) and CFEOM1 (OMIM 135700), which are clinically similar congenital cranial dysinnervation disorders that also feature CN3 hypoplasia and more widespread EOM abnormalities.