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S. Anwar, H.H. Goebel, M.S. Damian, N. Sarvananthan, S. Thomas, I. Gottlob; Absence of Vertical Eye Movements . Invest. Ophthalmol. Vis. Sci. 2006;47(13):789.
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Congenital horizontal gaze palsy associated with scoliosis, uncrossed motor and sensory tracts and brainstem hypoplasia has been localised on the ROBO3 gene on chromosome 11. However, we are not aware of patients with congenital vertical gaze palsy. We describe a patient with probable congenital bilateral absence of vertical eye movements.
A 28 year old Thai female underwent full ophthalmological examination because of right hypertropia. Muscle biopsy was obtained during surgery.
Clinical examination revealed a right hypertropia with scleral show. Past ocular history included surgery for divergent squint aged 20 years. The patient was hypothyroid but well controlled on oral thyroxine. There was no family history of eye disorder. She had 20 prism dioptres (dpt) of right hypertropia. Horizontal eye movements were normal. Voluntary vertical eye movements and vestibular ocular reflex were absent bilaterally. Bell's phenomenon was present. Ocular examination was otherwise unremarkable. Magnetic resonance imaging of brain and orbits was normal. The patient underwent right superior rectus recession of 4 mm. Forced duction test failed to demonstrate restriction. Superior rectus muscle biopsy showed muscle fibres consistent with paretic muscle but no fibrosis. Post–operatively she had a residual 10 dpt of right hypertropia and although initially complained of diplopia, this resolved spontaneously, and she was pleased with the cosmetic result.
This case illustrates an isolated presumed congenital supranuclear vertical eye movement disorder as evidenced by the lack of features associated with thyroid eye disease and congenital fibrosis syndromes.
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