Abstract Details

Title Ocular Motor Abnormalities and Congenital Facial Weakness

Topic Neuro-ophthalmology/Neuro-otology

Presentation(s) S47 - (-)

Poster/Presentation
Number 005

Objective

Background The classic condition of ocular motor deficits and facial weakness is Mobius syndrome, attributed to abducens and facial nerve involvement. Reports of facial weakness with oculomotor dysfunction or accommodative esotropia due to genetic mutations (TUBB3 and HOXB1, respectively), have recently broadened the clinical spectrum.

Design/Methods We report ocular motor findings in 39 patients with congenital facial weakness.

Results We examined 39 patients (age range 2-64, 25 females), 36 with bilateral and 3 with unilateral facial weakness. Two had isolated bilateral abduction defects. The most common pattern (n=16) was bilateral horizontal gaze paresis (BHGP) with spared vertical range. Ten patients had BHGP plus vertical involvement, 4 with impaired elevation and depression and 6 with impaired elevation only. Nine patients had full motility range; 2 with a large esotropia. One patient had isolated unilateral limited adduction and one could not be characterized. Two patients had bilateral ptosis - one with diffuse ophthalmoplegia and one with spared vertical eye movements. No patient had pupillary involvement. Twenty-nine patients performed pursuit, saccade, and optokinetic nystagmus testing. Of particular importance was the absence of vertical optokinetic nystagmus in 19 patients, even when vertical range of motion was unaffected. Twenty-three patients had not undergone strabismus surgery. Of these, 15 had normal alignment. By history and exam, 59% had tongue abnormalities, 51% imbalance, and 26% cognitive impairment. Mirror movements, seizures, and psychiatric abnormalities occurred, but were less common.

Conclusions A range of ocular motor abnormalities and other deficits may occur with congenital facial weakness. The most common pattern of BHGP suggests involvement of motoneurons and interneurons in the abducens nuclei. Characterization of the patterns of ocular motor deficits in congenital facial weakness may assist continued advancement in identification of the genetic defects underlying these disorders.

Authors/Disclosures
Janet C. Rucker, MD PRESENTER	Dr. Rucker has nothing to disclose.
	No disclosure on file
Jeffrey A. Cohen, MD (Cleveland Clinic)	Dr. Cohen has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Convelo. Dr. Cohen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Astoria. Dr. Cohen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Bristol Myers Squibb. Dr. Cohen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Atara. Dr. Cohen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Cohen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Viatris. Dr. Cohen has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Celltrion. Dr. Cohen has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Sage.
	No disclosure on file
	No disclosure on file

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