April 2014
Volume 55, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2014
Ocular Motility Disturbances in Orbitofacial Neurofibromatosis Type 1
Author Affiliations & Notes
  • Thomas M Bosley
    Ophthalmology, King Saud University, Riyadh, Saudi Arabia
  • Ibrahim A Alorainy
    Radiology, King Saud University, Riyadh, Saudi Arabia
  • Jose Morales
    Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
  • Imtiaz A Chaudhry
    Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
  • Sahar M Elkhamary
    Diagnostic Imaging, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
  • Darren T Oystreck
    Ophthalmology, King Saud University, Riyadh, Saudi Arabia
  • Footnotes
    Commercial Relationships Thomas Bosley, None; Ibrahim Alorainy, None; Jose Morales, None; Imtiaz Chaudhry, None; Sahar Elkhamary, None; Darren Oystreck, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science April 2014, Vol.55, 2585. doi:
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      Thomas M Bosley, Ibrahim A Alorainy, Jose Morales, Imtiaz A Chaudhry, Sahar M Elkhamary, Darren T Oystreck; Ocular Motility Disturbances in Orbitofacial Neurofibromatosis Type 1. Invest. Ophthalmol. Vis. Sci. 2014;55(13):2585.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract
 
Purpose
 

To review ocular motility disturbances in patients with orbitofacial neurofibromatosis type 1 (OFNF) who have neurofibromas on the lid, brow, or face during infancy or early childhood. OFNF is commonly associated with enlargement of the ipsilateral globe, sphenoid and orbital dysplasia, and neurofibromas involving the orbit and cavernous sinus, all of which can affect ocular motility.

 
Methods
 

Retrospective medical record review and re-examination of selected patients from one institution.

 
Results
 

Forty-nine patients met National Institutes of Health criteria for OFNF and had adequate clinical and neuroimaging information to assess ocular motility and factors affecting eye movements. Fourteen patients had no strabismus, all of whom had 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. Eight 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. Twenty-seven patients had incomitant strabismus, all with downward displacement of the globe and ductional limitations (Figure).

 
Conclusions
 

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 despite an enlarged globe, substantial distortion of orbit and sphenoid anatomy, and tumor in orbit and/or cavernous sinus. Comitant strabismus occurred with full ocular motility and reduced vision in at least one eye. Incomitant strabismus was always accompanied by reduced vision and a ductional abnormality in one or both eyes that in general seemed due to anatomic abnormalities of the orbit and skull rather than to partial or complete cranial nerve palsy. Unfortunately, the causes of ductional abnormalities in OFNF are currently difficult or impossible to treat.

 
 
External photo in (A) primary gaze, (B) right gaze, (C) left gaze, (D) up gaze, and (E) down gaze. (F) Axial T2-weighted MR image showing left sphenoid dysplasia causing mass effect on the extraocular muscles and optic nerve (open arrow). (G) Enhanced axial T1-weighted image showing plexiform neurofibroma involving the left orbit and eye lid (open arrow). (H) Coronal T1-weighted image showing left sphenoid dysplasia (open arrow).
 
External photo in (A) primary gaze, (B) right gaze, (C) left gaze, (D) up gaze, and (E) down gaze. (F) Axial T2-weighted MR image showing left sphenoid dysplasia causing mass effect on the extraocular muscles and optic nerve (open arrow). (G) Enhanced axial T1-weighted image showing plexiform neurofibroma involving the left orbit and eye lid (open arrow). (H) Coronal T1-weighted image showing left sphenoid dysplasia (open arrow).
 
Keywords: 522 eye movements • 539 genetics • 631 orbit  
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