Synergistic divergence: A distinct ocular motility dysinnervation pattern

Darren T. Oystreck, Arif O. Khan, Antonio Aguirre Vila-Coro, Olugbemisola Oworu, Nada Al-Tassan, Wai Man Chan, Elizabeth C. Engle, Thomas M. Bosley

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)5213-5216
Number of pages4
JournalInvestigative Ophthalmology and Visual Science
Volume50
Issue number11
DOIs
StatePublished - Nov 2009
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience

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