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  • Title: Ocular motility abnormalities in orbitofacial neurofibromatosis type 1.
    Author: Oystreck DT, Alorainy IA, Morales J, Chaudhry IA, Elkhamary SM, Bosley TM.
    Journal: J AAPOS; 2014 Aug; 18(4):338-43. PubMed ID: 25173895.
    Abstract:
    PURPOSE: To evaluate the causes of ocular motility disturbances in a group of patients with orbitofacial neurofibromatosis (OFNF) with neurofibromas on the lid, brow, face, or in the orbit from infancy or early childhood. METHODS: The medical records of patients with OFNF from one institution were retrospectively reviewed; selected patients were reexamined. RESULTS: A total of 45 patients with unilateral OFNF and 4 with bilateral OFNF were included. Of these, 14 had no strabismus and relatively good vision, with no ductional abnormalities on either side despite large globes, sphenoid dysplasia, and neurofibromas in the orbit and/or cavernous sinus in many. The 8 patients with comitant strabismus also had no ductional abnormalities with a similar constellation of anatomic abnormalities, but these patients all had poor vision in at least one eye. The 27 patients with incomitant strabismus all had downward displacement of the globe and limited ductions. CONCLUSIONS: The pathologic anatomic changes associated with OFNF do not always cause ocular motility abnormalities: strabismus generally was not present when ocular motility was full and visual acuity was good. Comitant strabismus occurred in the setting of full ocular motility with reduced vision in at least one eye. Incomitant strabismus was always accompanied by reduced vision and a ductional abnormality in one or both eyes due to anatomic abnormalities of the orbit and skull.
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