Department of Ophthalmology, University of Bonn, Ernst-Abbe-Str. 2, 53127 Bonn, Germany.
Prog Retin Eye Res. 2013 May;34:49-77. doi: 10.1016/j.preteyeres.2012.11.002. Epub 2012 Dec 3.
Macular telangiectasia type 2 is a bilateral disease of unknown cause with characteristic alterations of the macular capillary network and neurosensory atrophy. Its prevalence may be underestimated and has recently been shown to be as high as 0.1% in persons 40 years and older. Biomicroscopy may show reduced retinal transparency, crystalline deposits, mildly ectatic capillaries, blunted venules, retinal pigment plaques, foveal atrophy, and neovascular complexes. Fluorescein angiography shows telangiectatic capillaries predominantly temporal to the foveola in the early phase and a diffuse hyperfluorescence in the late phase. High-resolution optical coherence tomography (OCT) may reveal disruption of the photoreceptor inner segment-outer segment border, hyporeflective cavities at the level of the inner or outer retina, and atrophy of the retina in later stages. Macular telangiectasia type 2 shows a unique depletion of the macular pigment in the central retina and recent therapeutic trials showed that such depleted areas cannot re-accumulate lutein and zeaxanthin after oral supplementation. There have been various therapeutic approaches with limited or no efficacy. Recent clinical trials with compounds that block vascular endothelial growth factor (VEGF) have established the role of VEGF in the pathophysiology of the disease, but have not shown significant efficacy, at least for the non-neovascular disease stages. Recent progress in structure-function correlation may help to develop surrogate outcome measures for future clinical trials. In this review article, we summarize the current knowledge on macular telangiectasia type 2, including the epidemiology, the genetics, the clinical findings, the staging and the differential diagnosis of the disease. Findings using retinal imaging are discussed, including fluorescein angiography, OCT, adaptive optics imaging, confocal scanning laser ophthalmoscopy, and fundus autofluorescence, as are the findings using visual function testing including visual acuity and fundus-controlled microperimetry. We provide an overview of the therapeutic approaches for both non-neovascular and neovascular disease stages and provide a perspective of future directions including animal models and potential therapeutic approaches.
2 型黄斑毛细血管扩张症是一种双侧疾病，病因不明，其特征为黄斑毛细血管网络和神经感觉组织萎缩发生改变。其发病率可能被低估，最近研究显示，40 岁及以上人群中发病率高达 0.1%。眼底镜检查可能显示视网膜透明度降低、结晶沉积、毛细血管轻度扩张、小静脉变钝、视网膜色素斑块、黄斑中心凹萎缩和新生血管复合物。荧光素血管造影显示，在早期阶段，毛细血管扩张主要位于黄斑中心凹颞侧，晚期呈弥漫性高荧光。高分辨率光学相干断层扫描（OCT）可能显示光感受器内节-外节边界中断、内或外视网膜水平的低反射性空洞以及晚期视网膜萎缩。2 型黄斑毛细血管扩张症在中心视网膜处黄斑色素独特缺失，最近的治疗试验表明，口服补充叶黄素和玉米黄质后，这些缺失区域无法重新积聚。已经有各种治疗方法，但效果有限或无效。最近使用血管内皮生长因子（VEGF）抑制剂的临床试验证实了 VEGF 在疾病病理生理学中的作用，但至少对于非新生血管疾病阶段，并未显示出显著疗效。最近在结构-功能相关性方面的进展可能有助于为未来的临床试验开发替代终点。在这篇综述文章中，我们总结了 2 型黄斑毛细血管扩张症的现有知识，包括流行病学、遗传学、临床发现、分期和鉴别诊断。讨论了使用视网膜成像的发现，包括荧光素血管造影、OCT、自适应光学成像、共焦扫描激光检眼镜和眼底自发荧光，以及使用视力测试的发现，包括视力和眼底控制微视野。我们概述了非新生血管和新生血管疾病阶段的治疗方法，并提供了未来的方向，包括动物模型和潜在的治疗方法。
