Neurobiology-Neurodegeneration and Repair Laboratory, National Institutes of Health, Bethesda, MD, USA.
Clin Genet. 2013 Aug;84(2):160-6. doi: 10.1111/cge.12206.
Age-related macular degeneration (AMD) is the leading cause of central vision impairment in persons over the age of 50 years in developed countries. Both genetic and non-genetic (environmental) factors play major roles in AMD etiology, and multiple gene variants and lifestyle factors such as smoking have been associated with the disease. While dissecting the basic etiology of the disease remains a major challenge, current genetic knowledge has provided opportunities for improved risk assessment, molecular diagnosis and clinical testing of genetic variants in AMD treatment and management. This review addresses the potential of translating the wealth of genetic findings for improved risk prediction and therapeutic intervention in AMD patients. Finally, we discuss the recent advancement in genetics and genomics and the future prospective of personalized medicine in AMD patients.
年龄相关性黄斑变性（AMD）是发达国家 50 岁以上人群中心视力损害的主要原因。遗传和非遗传（环境）因素在 AMD 的发病机制中都起着重要作用，多种基因变异和生活方式因素，如吸烟，与该疾病有关。虽然解析疾病的基本病因仍然是一个主要挑战，但目前的遗传知识为改善 AMD 治疗和管理中遗传变异的风险评估、分子诊断和临床检测提供了机会。这篇综述探讨了将丰富的遗传发现转化为改善 AMD 患者风险预测和治疗干预的潜力。最后，我们讨论了遗传学和基因组学的最新进展以及 AMD 患者个体化医学的未来前景。
