在指甲骨综合征中的增殖性视网膜病变
Liangbo Linus Shen1, Amelia Bhisitkul1, Gregory M Lewis2
1Department of Ophthalmology, University of California, San Francisco, Wayne and Gladys Valley Center for Vision, 490 Illinois Street, 54H, San Francisco, CA, USA.
American journal of ophthalmology case reports
|April 24, 2025
概括
爪斑综合征 (NPS) 可以导致严重的视力丧失,原因是增殖性视网膜病变和囊性黄斑 (CME). 早期 fundus 检查对于出现视觉症状的 NPS 患者至关重要.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 遗传学 是一个
- 视网膜疾病 视网膜疾病
背景情况:
- 爪综合征 (NPS) 是一种罕见的自体主导性疾病.
- 眼部表现的NPS通常涉及前段和青光眼.
- 增殖性视网膜病变和囊性黄斑 (CME) 不常与NPS相关.
研究的目的:
- 报告一个带有双边增殖性视网膜病变和囊性黄斑胀 (CME) 的指甲斑块综合征 (NPS) 病例.
- 为了突出潜在的视网膜参与NPS超越前段异常.
主要方法:
- 一个45岁男性的病例报告,基因证实了NPS.
- 临床检查,包括 funduscopy 和成像.
- 系统性工作以排除视网膜病变的其他原因.
- 用内抗VEGF药物的治疗 (贝瓦齐祖马布,阿弗利伯塞普).
主要成果:
- 这位患者出现了缩的指甲,低可塑性骨和有限的肘部延伸.
- 他因光盘新血管化,玻璃体出血和双边CME而经历了视力损失.
- 用内注射治疗导致视网膜病理的部分改善.
结论:
- 这个案例记录了一个患有NPS的患者的异常视网膜发现 (增殖性视网膜病变和CME).
- 视网膜病理可能是NPS的一个未被认可的特征.
- 对于有视力投诉的NPS患者,建议进行常规的 fundus 检查和视网膜成像.
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