1. Oculomotor signs in infantile Gaucher disease
- Author
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Brian G. R. Neville, Chris Harris, Anthony Kriss, Malcolm Batin, David Taylor, and Anthony J Vivian
- Subjects
medicine.medical_specialty ,Palsy ,genetic structures ,Gaucher Disease Type 2 ,Eye movement ,Sensory system ,Audiology ,Ocular Motor Apraxia ,eye diseases ,Ophthalmology ,Pattern reversal ,Saccade ,medicine ,sense organs ,Neurology (clinical) ,Psychology - Abstract
A seven-month-old boy with infantile Gaucher disease presented because of neurological regression and apparent visual deterioration. Formal eye movement studies showed a total horizontal and vertical saccade palsy and a supranuclear downgaze pursuit palsy with intact horizontal and vertical oculocephalic responses. The presence of a functional sensory visual pathway was indicated by the presence of flash ERGs and pattern reversal evoked potentials.
- Published
- 1993
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