Schwartz-Jampel 综合征相关的眼睑痉挛和眼睑退缩的治疗。
Management of blepharospasm and blepharophimosis associated with Schwartz-Jampel syndrome.
机构信息
Department of Ophthalmology, Beijing Tongren Hospital, and Beijing Ophthalmology & Visual Science Key Lab, Capital Medical University, Beijing, China.
Department of Ophthalmology, Second Affiliated Hospital of Chongqing Medical University, Chongqing, China.
出版信息
J AAPOS. 2021 Feb;25(1):54-56. doi: 10.1016/j.jaapos.2020.10.009. Epub 2021 Feb 16.
We report the case of a 5-year-old boy with progressive bilateral blepharospasm and blepharophimosis secondary to Schwartz-Jampel syndrome type 1A. Molecular findings confirmed two novel heterozygous mutations in the HSPG2 gene. After the patient did not respond to a single injection of botulinum toxin, he underwent levator resection combined with orbicularis myectomy of bilateral upper and lower eyelids, with satisfactory aesthetic and functional outcomes.
我们报告了一例 5 岁男孩的病例，其因 Schwartz-Jampel 综合征 1A 型而出现进行性双侧眼睑痉挛和睑裂狭小。分子学发现证实 HSPG2 基因存在两个新的杂合突变。在患者对单次肉毒毒素注射无反应后，他接受了双侧上、下眼睑的提上睑肌切除术联合眼轮匝肌切除术，获得了满意的美学和功能效果。
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