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老年黄斑变性(AMD)在西方发达国家是老年人视力损害的主要原因,在我国其发病率也有上升的趋势。AMD是一种复杂的疾病,虽然其发病机制尚不明确,但一些环境危险因素已得到证实。近来一些研究表明其可能在AMD的发病中起着重要的作用。ABCR、VMD2、TIMP3、ApoE、DHRD作为候补基因已开展研究,但研究结果尚存在争议。当前ABCR基因-Stargardt病的致病基因,成为研究的热点。虽然遗传因素对于AMD的确切作用目前尚不明确,但AMD的分子遗传学研究对于确定AMD的发病机制有重要作用。对老年黄斑变性的分子遗传研究进展进行综述。
Age-related macular degeneration (AMD) is a major cause of visual impairment in the elderly in the developed western countries, and its incidence is also on the rise in China. AMD is a complex disease and although its pathogenesis is not clear, some environmental risk factors have been demonstrated. Some recent studies have shown that it may play an important role in the pathogenesis of AMD. ABCR, VMD2, TIMP3, ApoE, DHRD as candidate genes have been studied, but the results of the study are still controversial. The current ABCR gene-Stargardt disease pathogenic genes, has become a research hot spot. Although the exact role of genetic factors in AMD remains unclear, molecular genetic studies of AMD play an important role in determining the pathogenesis of AMD. The progress of molecular genetic studies on age-related macular degeneration is reviewed.