Elevation of one eye during tooth brushing.
OBJECTIVE
To describe a patient with congenital fibrosis of the extraocular muscles (CFEOM) and elevation of one eye during tooth brushing.


METHODS
A 9-month-old girl underwent full ophthalmologic examination. Exonic and flanking intronic sequences of the CFEOM2 ARIX gene were sequenced.


RESULTS
The patient's clinical findings were consistent with classic CFEOM including chin elevation, bilateral ptosis, infraducted globes, no voluntary ocular elevation beyond midline, and convergence on attempted upgaze. During tooth brushing her right eye elevated beyond midline. This was elicited only by touching her teeth or gums but not by mouth movements. No ARIX mutations were detected.


CONCLUSIONS
This is the first case described with CFEOM and aberrant regeneration between the nerve to the superior rectus and the trigeminal nerve. This aberrant innervation supports a primary developmental abnormality of the cranial nerves in CFEOM.
Gottlob
Irene
I
Department of Ophthalmology, Leicester Warwick Medical School, United Kingdom. ig15@le.ac.uk
Jain
Sunila
S
Engle
Elizabeth C
EC
D004247:DNA / Q000032:analysis; D005260:Female; D005355:Fibrosis; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007223:Infant; D009419:Nerve Tissue Proteins; D015835:Ocular Motility Disorders / Q000151:congenital / Q000175:diagnosis / Q000209:etiology*; D009801:Oculomotor Muscles / Q000294:innervation / Q000473:pathology; D009802:Oculomotor Nerve / Q000002:abnormalities; D014099:Toothbrushing / Q000009:adverse effects*; D014157:Transcription Factors / Q000235:genetics
D018398:Homeodomain Proteins; D009419:Nerve Tissue Proteins; C491061:PHOX2A protein, human; D014157:Transcription Factors; D004247:DNA