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Originally published In Press as doi:10.1167/iovs.08-2928 on July 2, 2009
 (Investigative Ophthalmology and Visual Science. 2009;50:5213-5216.)
© 2009 by The Association for Research in Vision and Ophthalmology, Inc.
doi:10.1167/iovs.08-2928
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Synergistic Divergence: A Distinct Ocular Motility Dysinnervation Pattern

Darren T. Oystreck,1,2 Arif O. Khan,1 Antonio Aguirre Vila-Coro,1,3 Olugbemisola Oworu,3 Nada Al-Tassan,4 Wai-Man Chan,5 Elizabeth C. Engle,5,6,7,8,9,10 and Thomas M. Bosley2,11,12

From the 1Pediatric Ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia; 3Pediatric Ophthalmology Section, Calderdale Royal Infirmary, Halifax, United Kingdom; 4Genetics Division, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; Departments of 5Neurology and 6Ophthalmology and the 7Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, Massachusetts; Departments of 8Neurology and 9Ophthalmology, Harvard Medical School, Boston, Massachusetts; 10Howard Hughes Medical Institute, Chevy Chase, MD; 11Division of Neurology, Cooper University Hospital, Camden, New Jersey; and 12Department of Ophthalmology, King Saud University, Riyadh, Saudi Arabia.

Corresponding author: Thomas M. Bosley, Department of Ophthalmology, King Abdulaziz University Hospital, PO Box 245, Riyadh 11411, Saudi Arabia; tmbosley{at}bosleynet.net.

Purpose. To summarize the clinical, neuroradiologic, and genetic observations in a group of patients with unilateral synergistic divergence (SD).

Methods. Five unrelated patients with unilateral SD underwent ophthalmic and orthoptic examinations; three of them also had magnetic resonance imaging of the brain and orbits. Three patients underwent genetic evaluation of genes known to affect ocular motility: KIF21A, PHOX2A, HOXA1, and ROBO3.

Results. The patients did not meet the clinical criteria for CFEOM types 1, 2, or 3. Each patient had severe adduction weakness on the affected side and large-angle exotropia in primary gaze that increased on attempted contralateral gaze because of anomalous abduction. Magnetic resonance imaging revealed a much smaller medial rectus muscle in the involved SD orbit. Oculomotor cranial nerves were present in the one patient imaged appropriately. Genetic sequencing in three patients revealed no mutations in KIF21A, PHOX2A, HOXA1, or ROBO3.

Conclusions. SD should be classified as a distinct congenital ocular motility pattern within congenital cranial dysinnervation disorders. It may be caused by denervation of the medial rectus with dysinnervation of the ipsilateral lateral rectus by the oculomotor nerve precipitated by genetic abnormalities (some currently identified) or by local environmental, teratogenic, or epigenetic disturbances.






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