无视网膜脱离的儿童Stickler综合征1例并文献复习

doi:10.6040/j.issn.1673-3770.0.2023.050

摘要/Abstract

摘要： 目的探讨Stickler综合征儿童患者的临床表现、诊断思维、治疗方法及预后,以便对其进行早期诊断。方法回顾性分析1例无视网膜脱离的Stickler综合征儿童患者的病历资料并复习相关文献进行总结,诉左眼视力下降伴视物变形15 d于我院就诊,经双眼OCT、视野及眼底荧光素血管造影等检查,并行眼内液检查及基因测序检出COL2A1基因,变异位点c.1597C>T/p.Arg533*(NM_001844.5),诊断为Stickler综合征Ⅰ型,行视网膜激光光凝术及降眼压治疗。结果治疗后患儿左眼矫正视力恢复至0.5,眼压恢复正常。结论儿童Stickler综合征早期治疗十分重要,对于符合相关临床表现的患者,特别是6岁前就患有高度近视的,建议在初次怀疑该病时就进行基因检测,并做好预防治疗和定期多系统随访。

关键词: Stickler综合征, COL2A1基因, 高度近视, 视网膜脱离

Abstract: Objective To investigate the clinical presentation, diagnosis, treatment, and prognosis of children with Stickler syndrome to enable early diagnosis. Methods We retrospectively analyzed and summarized the medical records of a child with Stickler syndrome without retinal detachment and reviewed the relevant literature. He presented to our hospital with a complaint of decreased visual acuity in the left eye with visual distortion for 15 days, and was examined by optical coherence tomography and visual field and fundus fluorescein angiography in both eyes. Intraocular fluid examination and gene sequencing detected the COL2A1 variant c.1597C>T/ p.Arg533*(NM_001844.5), and he was diagnosed with Stickler syndrome type I. Retinal laser photocoagulation and intraocular pressure(IOP)lowering treatment were performed. Results After treatment, the child's visual acuity in the left eye returned to 0.5 and his IOP returned to normal. Conclusion Early treatment of Stickler syndrome in children is important. Genetic testing in any child for whom Stickler syndrome is suspected, as well as preventive treatment and regular multisystem follow-up, is recommended for patients who fit the relevant clinical picture, especially if they have high myopia before the age of 6 years.

Key words: Stickler syndrome, COL2A1 gene, High myopia, Retinal detachment

中图分类号:

R771.3

卢松,夏逸帆,李子晔,魏菁. 无视网膜脱离的儿童Stickler综合征1例并文献复习[J]. 山东大学耳鼻喉眼学报, 2024, 38(3): 97-101.

LU Song, XIA Yifan, LI Ziye, WEI Jing. Stickler's syndrome in children without retinal detachment:a case report and literature review[J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2024, 38(3): 97-101.

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