Montezuma Sandra R, Sobrin Lucia, Seddon Johanna M
Massachusetts Eye and Ear Infirmary and the Department of Ophthalmology, Harvard Medical School, 243 Charles Street, Boston, MA 02114, USA.
Semin Ophthalmol. 2007 Oct-Dec;22(4):229-40. doi: 10.1080/08820530701745140.
Age-related macular degeneration (AMD) is a degenerative disease of the retina and the leading cause of blindness in industrialized countries. AMD is a complex disease caused by the combination of genetic predisposition and environmental factors. The prevalence of AMD increases with age. The adverse effect of smoking is well established. Genetic predisposition has been demonstrated by familial aggregation studies and twin studies. Using genome linkage scan and association studies, multiple potentially causative genes have been identified. The chromosomes most commonly implicated are 1q25-31 and 10q26. In particular, variants in the gene for the complement factor H (CFH) and the genes PLEKHA1/LOC387715/HTRA1, Factor B (BF) and complement component 2 (C2) have been implicated as major risk or protective factors for the development of AMD. There have been some advances in the treatment of this condition; however, a complete cure remains remote but hopeful. Understanding the causative environmental and genetic interactions will facilitate the development of future preventive methods and treatments.
年龄相关性黄斑变性（AMD）是一种视网膜退行性疾病，也是工业化国家失明的主要原因。AMD是一种由遗传易感性和环境因素共同作用引起的复杂疾病。AMD的患病率随年龄增长而增加。吸烟的不良影响已得到充分证实。家族聚集性研究和双胞胎研究证明了遗传易感性。通过全基因组连锁扫描和关联研究，已鉴定出多个潜在的致病基因。最常涉及的染色体是1q25 - 31和10q26。特别是，补体因子H（CFH）基因以及PLEKHA1/LOC387715/HTRA1、因子B（BF）和补体成分2（C2）基因的变异已被认为是AMD发生的主要风险或保护因素。在这种疾病的治疗方面已经取得了一些进展；然而，完全治愈仍然遥远但充满希望。了解致病的环境和遗传相互作用将有助于未来预防方法和治疗的发展。
