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网状假性玻璃膜疣:当前认识

Reticular pseudodrusen: current understanding.

作者信息

Wightman Antony J, Guymer Robyn H

机构信息

Centre for Eye Research Australia, Melbourne, Victoria, Australia.

Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.

出版信息

Clin Exp Optom. 2019 Sep;102(5):455-462. doi: 10.1111/cxo.12842. Epub 2018 Oct 8.

Abstract

Reticular pseudodrusen (RPD), also known as subretinal drusenoid deposits, represent a morphological change to the retina distinct from other subtypes of drusen by being located above the level of the retinal pigment epithelium. Although they can infrequently appear in individuals with no other apparent pathology, their highest rates of occurrence are in association with age-related macular degeneration (AMD), for which they hold clinical significance by being highly correlated with end-stage disease sub-types, choroidal neovascularisation and geographic atrophy. Reticular pseudodrusen are also found in other diseases, most notably Sorsby's fundus dystrophy, pseudoxanthoma elasticum and acquired vitelliform lesions. They are found more frequently in females, with increased age and more commonly bilaterally than unilaterally. Increased risk of RPD formation is conveyed by genetic variants known to increase risk of AMD development, including complement factor H, age-related maculopathy susceptibility 2, and high-temperature requirement A serine peptidase 1; however, to date, no genetic factor has been found to predispose to RPD independent of those that carry risks for AMD. They have typical features visible on multimodal imaging, identifiable either as single lesions or more commonly in yellowish-white net-like patterns on colour fundus photography and are particularly distinguishable using spectral domain optical coherence tomography, fundus auto-fluorescence, and near infrared reflectance imaging. On histological examination, RPD have been shown to have distinct compositions in comparison to typical drusen, suggesting different pathways of pathogenesis. Although their aetiology remains unclear, presence of opsin within lesions, a high topographic association with areas of highest rod-photoreceptor concentration and functional deficits most pronounced within the scotopic range, has implicated rod photoreceptor dysfunction as a component of RPD.

摘要

网状假性玻璃膜疣(RPD),也称为视网膜下类玻璃膜疣沉积物,是视网膜的一种形态学改变,与其他类型的玻璃膜疣不同,它位于视网膜色素上皮层之上。尽管它们在没有其他明显病变的个体中偶尔出现,但其最高发生率与年龄相关性黄斑变性(AMD)相关,它们通过与晚期疾病亚型、脉络膜新生血管形成和地图状萎缩高度相关而具有临床意义。网状假性玻璃膜疣也见于其他疾病,最显著的是索斯比眼底营养不良、弹性假黄瘤和获得性卵黄样病变。它们在女性中更常见,随着年龄增长而增多,并且双侧发病比单侧发病更常见。已知增加AMD发生风险的基因变异会增加RPD形成的风险,包括补体因子H、年龄相关性黄斑病变易感性2和高温需求A丝氨酸蛋白酶1;然而,迄今为止,尚未发现独立于那些携带AMD风险的基因因素会导致RPD。它们在多模态成像上有典型特征,在彩色眼底照相上可识别为单个病变或更常见的黄白色网状图案,并且使用光谱域光学相干断层扫描、眼底自发荧光和近红外反射成像特别容易区分。组织学检查显示,与典型玻璃膜疣相比,RPD具有不同的成分,提示发病机制不同。尽管其病因仍不清楚,但病变内存在视蛋白、与杆状光感受器浓度最高的区域有高度地形相关性以及在暗视范围内最明显的功能缺陷,提示杆状光感受器功能障碍是RPD的一个组成部分。

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