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Skew Deviation and Ocular Tilt Reaction As Presenting Feature of Cacna1a Mutation Publisher Pubmed



Yadegari S1
Authors
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Authors Affiliations
  1. 1. Department 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

Source: Journal of AAPOS Published:2023


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. © 2023 American Association for Pediatric Ophthalmology and Strabismus