Gehrs Karen M, Jackson Jared R, Brown Eric N, Allikmets Rando, Hageman Gregory S
Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, USA.
Arch Ophthalmol. 2010 Mar;128(3):349-58. doi: 10.1001/archophthalmol.2010.18.
Age-related macular degeneration (AMD) is one of the most well-characterized late-onset, complex trait diseases. Remarkable advances in our understanding of the genetic and biological foundations of this disease were derived from a recent convergence of scientific and clinical data. Importantly, the more recent identification of AMD-associated variations in a number of complement pathway genes has provided strong support for earlier, paradigm-shifting studies that suggested that aberrant function of the complement system plays a key role in disease etiology. Collectively, this wealth of information has provided an impetus for the development of powerful tools to accurately diagnose disease risk and progression and complement-based therapeutics that will ultimately delay or prevent AMD. Indeed, we are poised to witness a new era of a personalized approach toward the assessment, management, and treatment of this debilitating, chronic disease.
年龄相关性黄斑变性(AMD)是最具特征的迟发性复杂性状疾病之一。我们对该疾病的遗传和生物学基础的理解取得了显著进展,这得益于近期科学和临床数据的融合。重要的是,最近在多个补体途径基因中发现的与AMD相关的变异,为早期具有范式转变意义的研究提供了有力支持,这些研究表明补体系统的异常功能在疾病病因中起关键作用。总体而言,这些丰富的信息推动了强大工具的开发,以准确诊断疾病风险和进展,并推动基于补体的治疗方法的发展,最终延缓或预防AMD。事实上,我们即将见证针对这种使人衰弱的慢性疾病的评估、管理和治疗的个性化方法的新时代。