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I Gottlob, S Jain, EC Engle; Elevation Of One Eye During Tooth Brushing . Invest. Ophthalmol. Vis. Sci. 2002;43(13):1459.
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Purpose: Congenital fibrosis of the extraocular muscles (CFEOM) results from dysfunction of all or part of the cranial nerve III (CNIII) and/or the muscles that CNIII innervates. Aberrant regeneration between different parts of CNIII is frequent, most commonly consisting of convergence on attempted up gaze. There have been rare reports in CFEOM of aberrant regeneration between CNIII and other cranial nerves such as the Marcus Gunn jaw winking (aberrant regeneration between superior branch of CNIII to levator muscle and fifth cranial nerve). We describe a patient with sporadic CFEOM and elevation of the right eye during tooth brushing. Method: A 9- month-old girl with sporadic CFEOM underwent full ophthalmologic examination. Genomic DNA was extracted from blood lymphocytes and used as a template to sequence the exonic and flanking intronic sequences of the CFEOM2 ARIX gene. Results: The patient had bilateral ptosis with infraducted globes with pronounced chin elevation. On down gaze her eyes were straight and she had a full range of horizontal eye movements. She could not elevate her eyes beyond midline voluntarily or by vestibulo-ocular reflex. On attempted up gaze her eyes converged. During tooth brushing her right eye was elevated beyond midline, the eyelid covering part of the right pupil. This elevation could only be elicited by touching her teeth or gums but not by mouth movements. No mutations in ARIX were detected. Conclusion: The patient's clinical findings are consistent with classic CFEOM. This is the first case described with CFEOM and aberrant regeneration between the superior division of CNIII to the superior rectus and CN V. Stimulation of the facial nerve elicits elevation of the eye above midline which was not possible voluntarily or on vestibular stimulation. This congenital aberrant innervation supports primary developmental abnormality of the cranial nerves in CFEOM rather than primary abnormality of muscle. In addition, the finding of aberrant innervation of the superior rectus is consistent with the neuropathological study of classic CFEOM in which normal normal innervation by the superior division of CNIII is absent.
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