Connell Paul P, Keane Pearse A, O'Neill Evelyn C, Altaie Rasha W, Loane Edward, Neelam Kumari, Nolan John M, Beatty Stephen
Waterford Regional Hospital, Dunmore Road, Waterford, Ireland.
J Ophthalmol. 2009;2009:360764. doi: 10.1155/2009/360764. Epub 2009 Sep 6.
Age-related maculopathy (ARM) is the leading cause of blindness in the elderly. Although beneficial therapeutic strategies have recently begun to emerge, much remains unclear regarding the etiopathogenesis of this disorder. Epidemiologic studies have enhanced our understanding of ARM, but the data, often conflicting, has led to difficulties with drawing firm conclusions with respect to risk for this condition. As a consequence, we saw a need to assimilate the published findings with respect to risk factors for ARM, through a review of the literature appraising results from published cross-sectional studies, prospective cohort studies, case series, and case control studies investigating risk for this condition. Our review shows that, to date, and across a spectrum of epidemiologic study designs, only age, cigarette smoking, and family history of ARM have been consistently demonstrated to represent risk for this condition. In addition, genetic studies have recently implicated many genes in the pathogenesis of age-related maculopathy, including Complement Factor H, PLEKHA 1, and LOC387715/HTRA1, demonstrating that environmental and genetic factors are important for the development of ARM suggesting that gene-environment interaction plays an important role in the pathogenesis of this condition.
年龄相关性黄斑病变（ARM）是老年人失明的主要原因。尽管最近开始出现有益的治疗策略，但关于这种疾病的病因发病机制仍有许多不清楚的地方。流行病学研究增进了我们对ARM的理解，但这些数据往往相互矛盾，导致难以就这种疾病的风险得出确凿结论。因此，我们认为有必要通过回顾评估已发表的横断面研究、前瞻性队列研究、病例系列和病例对照研究结果的文献，来汇总关于ARM风险因素的已发表研究结果。我们的综述表明，迄今为止，在一系列流行病学研究设计中，只有年龄、吸烟和ARM家族史一直被证明是这种疾病的风险因素。此外，基因研究最近发现许多基因与年龄相关性黄斑病变的发病机制有关，包括补体因子H、PLEKHA 1和LOC387715/HTRA1，这表明环境和遗传因素对ARM的发展很重要，提示基因-环境相互作用在这种疾病的发病机制中起重要作用。
