TY - JOUR
T1 - Synergistic divergence
T2 - A distinct ocular motility dysinnervation pattern
AU - Oystreck, Darren T.
AU - Khan, Arif O.
AU - Vila-Coro, Antonio Aguirre
AU - Oworu, Olugbemisola
AU - Al-Tassan, Nada
AU - Chan, Wai Man
AU - Engle, Elizabeth C.
AU - Bosley, Thomas M.
PY - 2009/11
Y1 - 2009/11
N2 - 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.
AB - 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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U2 - 10.1167/iovs.08-2928
DO - 10.1167/iovs.08-2928
M3 - Article
C2 - 19578026
AN - SCOPUS:78649395972
SN - 0146-0404
VL - 50
SP - 5213
EP - 5216
JO - Investigative Ophthalmology and Visual Science
JF - Investigative Ophthalmology and Visual Science
IS - 11
ER -