Congenital bilateral supranuclear vertical gaze palsy with striking large-angle exotropia in young adult.
Vaishali Tomar, Shivani Kumari, Mittali Khurana et al.
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Case in brief
A 20-year-old man presented with lifelong bilateral outward eye deviation and inability to look upward. Examination showed complete bilateral upgaze restriction, with preserved downgaze and horizontal movements, intact Bell’s phenomenon, and normal vestibulo-ocular reflexes. Preserved adduction, normal pupils, and absence of ptosis or globe retraction argued against bilateral third nerve palsy with aberrant regeneration; neuroimaging was unremarkable. The findings supported congenital bilateral supranuclear vertical gaze palsy with large-angle exotropia and hypotropia. After left medial rectus resection and lateral rectus recession using muscle transplantation, alignment improved on postoperative day 1, although residual exotropia and hypotropia remained. Long-term follow-up was unavailable.
What made this case unusual
The case combined congenital bilateral supranuclear upgaze palsy with striking large-angle horizontal and vertical deviations, an association the authors describe as scarcely reported.
Diagnostic / clinical pearl
In atypical strabismus with vertical gaze limitation, preserved vestibulo-ocular reflexes and other ocular motor findings can help localize the deficit as supranuclear; assess motility and vestibular reflexes carefully.