Tehran University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share By
Skew Deviation and Ocular Tilt Reaction As Presenting Feature of Cacna1a Mutation Publisher Pubmed



Yadegari S1
Authors

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