视网膜脱落在第九类原衰退的斯蒂克勒综合征
Daniel Maghsoudi1, Thomas Rw Nixon1,2, Howard Martin1,2
1Vitreoretinal Research Group, John van Geest Centre for Brain Repair, University of Cambridge, Forvie Site, Robinson Way, Cambridge, CB2 0PY, UK.
Eye (London, England)
|October 15, 2024
概括
与IX型原相关的衰退性斯蒂克勒综合征 (SS) 显示,视网膜脱落 (RD) 风险低于主导形式. 一般来说,对于这些患者来说,不推预防性视网膜.
科学领域:
- 遗传学 是一个遗传学.
- 眼科医生 眼科 眼科
- 类风湿病学 类风湿病学
背景情况:
- 斯蒂克勒综合征 (SS) 包含各种遗传性疾病,其特点是眼部,关节和耳鼻面部异常.
- 主导性SS,通常与COL2A1 / COL11A1变体相关,具有显著的视网膜脱落 (RD) 风险.
- 与IX型原基因变异 (COL9A1,COL9A2,COL9A3) 相关的衰退性SS不太了解,特别是在RD风险和患者表型方面.
研究的目的:
- 为了调查RD的发病率在患有第九型衰退性Stickler综合征的患者.
- 为了评估预防性视网膜在这个患者群体中的潜在益处.
- 为了早期诊断,描述与衰退性SS相关的临床表型.
主要方法:
- 确定了来自11个家庭的13名患者的队列,这些患者患有IX型衰退性SS.
- 患者接受了多学科评估,包括眼科,风湿病学和听力学.
- 分析了遗传变异和临床表现.
主要成果:
- 六个家庭呈现了新的遗传变异;七个家庭的父母是血缘亲属.
- 视网膜脱落 (RD) 发生在15.4%的患者中,主要是由于马撕裂;没有观察到巨型视网膜撕裂 (GRTs).
- 高近视和异常的玻璃体结构是常见的;听力损失 (91.7%) 比主导的SS更为普遍. 缺少口腔裂等面部或面部特征,但面部中部低成形发生在30.8%的患者中.
结论:
- 与主导形式相比,RD和GRTs的发病率在衰退性SS中似乎较低,尽管样本规模有限.
- 预防性视网膜脱落疗法不是常规适用于衰退性SS.
- 建议对患有单边GRT脱落的患者的同眼进行个别考虑.
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