title: Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes.
abstract: Congenital facial weakness is present in a heterogeneous group of conditions. Among them is Moebius syndrome, which has been defined as a disorder with congenital, non-progressive facial weakness and limited abduction of one or both eyes. It is typically attributed to agenesis of the abducens and facial cranial nerves. This paper details ocular motor findings of 40 subjects (23 months to 64 years; 24 females, 16 males) with congenital facial weakness: 38 presented at a Moebius Syndrome Conference and two were clinic patients. A new classification scheme of patterns based on ocular motor phenotype is presented. Of 40 subjects, 37 had bilateral and three had unilateral facial weakness. The most common ocular motor pattern (Pattern 1, n=17, 43%) was bilateral horizontal gaze palsy with intact vertical range. Pattern 2 (n=10, 26%) was bilateral horizontal gaze palsy with variable vertical limitations. Pattern 3, which was rare, was isolated abduction deficits (n=2, 5%). Others had full motility range and did not meet minimal criteria for the diagnosis of Moebius syndrome (Pattern 4, n=10, 26%). One subject was too severely affected to characterize. Abnormal vertical smooth pursuit was present in 17 (57%) of 30 subjects: nine with Pattern 1, five with Pattern 2, and three with Pattern 4. Abnormal vertical saccades were present in 10 (34%) of 29 subjects. Vertical saccades appeared slow in nine: six with Pattern 1 and three with Pattern 2. Vertical saccades were absent in one subject with Pattern 2. Abnormal vertical optokinetic nystagmus was present in 19 (68%) of 28 subjects: 10 with Pattern 1, six with Pattern 2, one with Pattern 3, and two with Pattern 4. Reduced convergence was present in 19 (66%) of 29 subjects: nine with Pattern 1, six with Pattern 2, one with Pattern 3, and three with Pattern 4. The most common pattern of ocular motor deficit in Moebius syndrome is bilateral horizontal gaze palsy from pontine abducens nuclear defects, rather than abducens nerve involvement. Defects in the range or dynamic properties of vertical movements in subjects with congenital facial weakness may suggest involvement of ocular motor structures in the midbrain, including oculomotor nerves or nuclei, vertical supranuclear saccadic centres, and convergence neurons. Such deficits were found even in subjects with full vertical motility range. Classification of patterns of ocular motor deficits in congenital facial weakness may assist with further delineation of anatomic localization and identification of genetic deficits underlying these disorders.
authors.affiliation: 1 Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.
authors.forename: Janet C
authors.initials: JC
authors.lastname: Rucker
authors.forename: Bryn D
authors.initials: BD
authors.lastname: Webb
authors.forename: Tamiesha
authors.initials: T
authors.lastname: Frempong
authors.forename: Harald
authors.initials: H
authors.lastname: Gaspar
authors.forename: Thomas P
authors.initials: TP
authors.lastname: Naidich
authors.forename: Ethylin Wang
authors.initials: EW
authors.lastname: Jabs
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005133:Eye Movements; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D020331:Mobius Syndrome / Q000145:classification* / Q000503:physiopathology*; D018908:Muscle Weakness / Q000503:physiopathology*; D015835:Ocular Motility Disorders / Q000145:classification* / Q000503:physiopathology*; D055815:Young Adult
keywords: Moebius syndrome; congenital cranial dysinnervation disorders; congenital facial weakness; horizontal gaze palsy; saccades; sixth nerve palsy