严重的排泄性维特雷诺二次性至同胞性PCDH12突变突变
Darius D Bordbar1, Nicole A Somani1, Emmanuel Chang2,3
1Cullen Eye Institute, Baylor College of Medicine, Houston, TX, USA.
Retinal cases & brief reports
|November 7, 2025
概括
亲属排泄性玻璃红蛋白病变 (FEVR) 可能是由PCDH12基因突变引起的. 这一案例突显了同卵性PCDH12功能丧失突变和FEVR之间的基因型-表型联系,强调了早期诊断和遗传测试.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
背景情况:
- 亲属排泄性玻璃内膜病变 (FEVR) 是一种罕见的遗传疾病,影响视网膜血管发育.
- 几种基因的突变与FEVR有关,但在许多情况下,遗传基础仍然未知.
- 参与血管完整性的基因PCDH12,已被认为在FEVR病变发生过程中发挥作用.
研究的目的:
- 描述FEVR的临床表现和过程在患有同卵性功能丧失PCDH12突变的患者中.
- 对PCDH12及其与FEVR的关联进行全面的文献审查.
- 为了确定PCDH12突变和FEVR之间的基因型-表型相关性.
主要方法:
- 一个14岁的男性双边视力下降的回顾性病例审查.
- 整体外基因组测序以识别遗传突变.
- 彩色底部摄影和光血管学,以评估视网膜血管异常.
- 顺序的双边激光光凝治疗治疗.
主要成果:
- 该患者出现了双边FEVR,包括广泛的视网膜新血管化,非血管视网膜,脂质排泄物和血管拖动.
- 整体外基因组测序揭示了PCDH12基因中的同卵性功能丧失突变.
- 激光光凝血治疗是双边进行的.
结论:
- PCDH12突变与FEVR的发病有关,可能是通过破坏血管完整性和Wnt/β-catenin信号传递.
- 这一案例提供了强有力的证据,证明同卵性PCDH12功能丧失突变和FEVR之间存在基因型-表型联系.
- 建议对FEVR患者进行眼科转诊和PCDH12遗传检测,特别是那些呈现不分化或综合征的患者.
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