与WDR19相关的视网膜病变呈现成年开始的Stargardt类表型
Annamaria Nunziata1,2, Alessio Antropoli1,2, Lorenzo Bianco1,2
1Ophthalmology Department, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Ophthalmic genetics
|February 19, 2025
概括
在WDR19基因的致病变体可以导致成人发病的Stargardt类疾病. 这个案例突出了新的WDR19变体及其相关的多式成像检测结果在一个患有纤毛病的患者.
科学领域:
- 遗传学 遗传学 是一个
- 眼科医生 眼科 眼科
- 分子生物学分子生物学
背景情况:
- WDR19基因中的致病变体与纤毛病相关.
- 乳病可以表现为各种眼科症状.
研究的目的:
- 描述一个患有成人发作的Stargardt类型表型的患者的多式成像发现.
- 调查双 WDR19 变体在这种表型中的作用.
主要方法:
- 综合眼科评估,包括裂纹灯检查,OCT,FAF和OCTA.
- 用于基因测试的下一代测序 (NGS).
主要成果:
- 该患者有双 WDR19 变体:p.(Arg477Leu) 和一个新的拼接变体c.1777+1delG.
- 多模式成像显示,双边区域明显减少自光 (DDAF) 的进展.
- 还观察到圆形区域的加厚和内囊.
结论:
- 双性WDR19变种可以导致一种自体逆向的,成人发作的Stargardt类型表型.
- 在非典型的Stargardt型黄斑病变的差异诊断中,应考虑WDR19变异,特别是在负面的ABCA4测试中.
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