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Skew deviation and ocular tilt reaction as presenting feature of CACNA1A mutation
1Department of Neuro-Ophthalmology and Strabismus, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran, Eye Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Abstract:
We report the case of a 9-year-old girl with aggravation of childhood left head tilt without diplopia. She had right hypertropia and right incyclotorsion, which was compatible with skew deviation and ocular tilt reaction (OTR). She had ataxia, epilepsy, and cerebellar atrophy. Her OTR and neurologic dysfunctions were secondary to a channelopathy caused by CACNA1A mutation.
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