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

被引：2
|
作者：
Yadegari, Samira [1 ,2 ]
机构：
[1] Univ Tehran Med Sci, Farabi Eye Hosp, Dept Neuroophthalmol & Strabismus, Tehran, Iran
[2] Univ Tehran Med Sci, Farabi Eye Hosp, Eye Res Ctr, Tehran, Iran
来源：
JOURNAL OF AAPOS | 2023年 / 27卷 / 03期
关键词：
D O I：
10.1016/j.jaapos.2023.03.006
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
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
引用
收藏
页码：166 / 169
页数：4
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