Elevation of one eye during tooth bruhing

PURPOE: To decribe a patient with congenital fibroi of the extraocular mucle (CFEOM) and elevation of one eye during tooth bruhing. METHOD: A 9-month-old girl underwent full ophthalmologic examination. Exonic and flanking intronic equence of the CFEOM2 ARIX gene were equenced. REULT: The patient’ clinical finding were conitent with claic CFEOM including chin elevation, bilateral ptoi, infraducted globe, no voluntary ocular elevation beyond midline, and convergence on attempted upgaze. During tooth bruhing her right eye elevated beyond midline. Thi wa elicited only by touching her teeth or gum but not by mouth movement. No ARIX mutation were detected. CONCLUION: Thi i the firt cae decribed with CFEOM and aberrant regeneration between the nerve to the uperior rectu and the trigeminal nerve. Thi aberrant innervation upport a primary developmental abnormality of the cranial nerve in CFEOM.