Investigative ophthalmology & visual science · 2009
Synergistic divergence: a distinct ocular motility dysinnervation pattern.
СтатьяПоддержка NIH: внешняя программаНазвание и аннотация: Перевод в очереди
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Oystreck Darren T, Khan Arif O, Vila-Coro Antonio Aguirre, Oworu Olugbemisola, Al-Tassan Nada, Chan Wai-Man, Engle Elizabeth C, Bosley Thomas M
Аннотация
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.
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.
Предметные рубрики MeSH
ChildChild, PreschoolConsanguinityDNA Mutational AnalysisEye MovementsHomeodomain ProteinsHumansInfantKinesinsMagnetic Resonance ImagingMaleMuscle DenervationOcular Motility DisordersOculomotor MusclesOculomotor NerveReceptors, Cell SurfaceReceptors, ImmunologicTomography, X-Ray ComputedTranscription FactorsHomeobox A1 ProteinRoundabout Proteins