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色素性静脉旁脉络膜视网膜萎缩:最新情况

Pigmented paravenous chorioretinal atrophy: Updated scenario.

作者信息

Antropoli Alessio, Arrigo Alessandro, Pili Lorenzo, Bianco Lorenzo, Berni Alessandro, Saladino Andrea, Bandello Francesco, Battaglia Parodi Maurizio

机构信息

Department of Ophthalmology, IRCCS San Raffaele Scientific Institute, Milan, Italy.

出版信息

Eur J Ophthalmol. 2024 Jul;34(4):941-951. doi: 10.1177/11206721231199118. Epub 2023 Sep 5.

Abstract

Pigmented paravenous chorioretinal atrophy (PPCRA) is an uncommon form of chorioretinal atrophy characterized by perivenous aggregations of pigment clumps associated with peripapillary and radial zones of retinal pigment epithelial atrophy that are distributed along the retinal veins. Most patients are asymptomatic, and evidence suggest that PPCRA is slowly progressing. Unless macular involvement is present, the majority of patients usually retain a normal visual function. Our ability to diagnose PPCRA has recently improved thanks to multimodal imaging, especially with the advent of ultra-widefield (UWF) imaging. Blood tests and functional and genetic testing can help with the correct differential diagnosis of pseudo-PPCRA or other disorders with similar characteristics. Although the cause of PPCRA is unknown, it is possible that it has a genetic basis. In this review we provide a summary of the multimodal imaging characteristics of PPCRA, and discuss its possible pathogenesis, based on the genes that have been associated with this disease.

摘要

色素性静脉旁脉络膜视网膜萎缩(PPCRA)是一种罕见的脉络膜视网膜萎缩形式,其特征是色素团块沿视网膜静脉呈静脉周围聚集,并伴有视乳头周围和视网膜色素上皮萎缩的放射状区域。大多数患者无症状,有证据表明PPCRA进展缓慢。除非累及黄斑,大多数患者通常保留正常视觉功能。由于多模态成像,特别是超广域(UWF)成像的出现,我们诊断PPCRA的能力最近有所提高。血液检查以及功能和基因检测有助于对假性PPCRA或其他具有相似特征的疾病进行正确的鉴别诊断。虽然PPCRA的病因尚不清楚,但有可能具有遗传基础。在本综述中,我们总结了PPCRA的多模态成像特征,并根据与该疾病相关的基因讨论其可能的发病机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1036/11295417/d9acbbb69989/10.1177_11206721231199118-fig1.jpg

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