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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Synergistic divergence: A distinct ocular motility dysinnervation pattern
Investigative Ophthalmology and Visual Science, Volume 50, No. 11, Year 2009
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Description
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. © Association for Research in Vision and Ophthalmology.
Authors & Co-Authors
Oystreck, Darren T.
Saudi Arabia, Riyadh
King Khaled Eye Specialist Hospital
Saudi Arabia, Riyadh
King Saud University
Khan, Arif Omar
Saudi Arabia, Riyadh
King Khaled Eye Specialist Hospital
Vila-Coro, Antonio Aguirre
Saudi Arabia, Riyadh
King Khaled Eye Specialist Hospital
United Kingdom, Halifax
Calderdale Royal Infirmary
Oworu, Olugbemisola
United Kingdom, Halifax
Calderdale Royal Infirmary
Al-Tassan, Nada A.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Chan, Waiman
United States, Boston
Division of Neurology
Engle, Elizabeth C.
United States, Boston
Division of Neurology
United States, Boston
Departments of Ophthalmology
United States, Boston
Boston Children's Hospital
United States, Boston
Harvard Medical School
United States, Chevy Chase
Howard Hughes Medical Institute
Bosley, Thomas M.
Saudi Arabia, Riyadh
King Saud University
United States, Camden
Cooper University Hospital
Statistics
Citations: 19
Authors: 8
Affiliations: 10
Identifiers
Doi:
10.1167/iovs.08-2928
ISSN:
01460404
e-ISSN:
15525783
Research Areas
Genetics And Genomics
Health System And Policy