Ocular Genetics Unit, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland,
Adv Exp Med Biol. 2014;801:229-35. doi: 10.1007/978-1-4614-3209-8_30.
Age-related macular degeneration (AMD) is the leading cause of legal blindness in elderly individuals in the developed world, affecting 30-50 million people worldwide. AMD primarily affects the macular region of the retina that is responsible for the majority of central, color and daytime vision. The presence of drusen, extracellular protein aggregates that accumulate under the retinal pigment epithelium (RPE), is a major pathological hallmark in the early stages of the disease. The end stage 'dry' and 'wet' forms of the disease culminate in vision loss and are characterized by focal degeneration of the RPE and cone photoreceptors, and choroidal neovascularization (CNV), respectively. Being a multifactorial and genetically heterogeneous disease, the pathophysiology of AMD remains unclear, yet, there is ample evidence supporting immunological and inflammatory processes. Here, we review the recent literature implicating some of these immune processes in human AMD and in animal models.
年龄相关性黄斑变性(AMD)是发达国家老年人致盲的主要原因,影响全球 3000 至 5000 万人。AMD 主要影响视网膜的黄斑区域,该区域负责大部分中央、彩色和日间视力。在疾病的早期阶段,存在视网膜色素上皮(RPE)下积聚的细胞外蛋白质聚集体——玻璃膜疣,这是主要的病理标志。疾病的终末期“干性”和“湿性”形式最终会导致视力丧失,其特征分别为 RPE 和视锥光感受器的局灶性变性以及脉络膜新生血管(CNV)。作为一种多因素和遗传异质性疾病,AMD 的病理生理学仍不清楚,但有大量证据支持免疫和炎症过程。在这里,我们回顾了最近的文献,这些文献表明其中一些免疫过程与人类 AMD 和动物模型有关。