Skew deviation and ocular tilt reaction as presenting feature of CACNA1A mutation.

doi:10.1016/j.jaapos.2023.03.006

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Skew deviation and ocular tilt reaction as presenting feature of CACNA1A mutation.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Jun 2023

Yadegari Samira

Abstract excerpt

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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Skew deviation and ocular tilt reaction as presenting feature of CACNA1A mutation.

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