School of Medicine, Tsinghua University, Beijing, China.
Department of Ophthalmology, Beijing Hospital, Beijing, China.
Ophthalmic Genet. 2021 Dec;42(6):768-772. doi: 10.1080/13816810.2021.1952617. Epub 2021 Sep 5.
Peripherin-2 (PRPH2) is a transmembrane glycoprotein crucial for the morphogenesis and stabilization of the photoreceptor outer segments. Variations in gene are associated with vision-threatening diseases.
Clinical manifestations and multimodal imaging were presented, as well as treatment history and six-year follow-up. In addition, genetic testing was performed to confirm the diagnosis.
In this report, we present an extremely rare case of choroidal neovascularization (CNV) secondary to pattern dystrophy simulating fundus flavimaculatus (PDSFF). Multimodal imaging showed typical symmetric yellow flecks in posterior pole and choroidal neovascularization requiring timely treatment. A novel nonsense variant of c.552 C > G; p.Y184X in gene was detected. The patient received intravitreal anti-vascular endothelial growth factor (anti-VEGF) treatment and maintained a good vision after six years.
We described a novel variant (Y184X) associated with PDSFF, its multimodal imaging, and long-term prognosis. Intravitreal anti-VEGF treatment can offer excellent visual prognosis in patients with PDSFF-associated CNV.
周边蛋白-2（PRPH2）是一种对光感受器外节的形态发生和稳定至关重要的跨膜糖蛋白。基因的变异与威胁视力的疾病有关。
介绍了临床表现和多模态成像，以及治疗史和六年随访。此外，还进行了基因检测以确认诊断。
本报告介绍了一例极为罕见的由模式营养不良引起的脉络膜新生血管（CNV）模仿眼底黄斑点（PDSFF）的病例。多模态成像显示后极有典型的对称黄色斑点和需要及时治疗的脉络膜新生血管。检测到基因中 c.552C>G；p.Y184X 的新型无义变异。患者接受了玻璃体内抗血管内皮生长因子（抗-VEGF）治疗，六年后视力保持良好。
我们描述了一种与 PDSFF 相关的新型变异（Y184X）及其多模态成像和长期预后。玻璃体内抗-VEGF 治疗可为 PDSFF 相关 CNV 患者提供良好的视力预后。
