老年黄斑变性的分子遗传学研究进展

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。的分子遗传学研究对于确定AMD的发病机制有重要作用。虽然遗传因素对于AMD的确切作用目前尚不明确，但AMD对老年黄斑变性的分子遗传研究进展进行综述。

Progress of molecular genetic study in age related macular degeneration

Age-related macular degeneration (AMD) is the major cause of severe visual impairment in developed world and the incidence of AMD is increasing in China. Although its pathogenesis remains unknown up to now, some environmental and other risk factors have been recognized. Recent studies show that genetic factors may play an important role in AMD. Some genes (ABCR gene, VMD2 gene, TIMP3 gene, ApoE gene, DHRD gene etc. ) are identified as the candidate genes to AMD. ABCR gene, which is responsible to Stargardt' s disease, has become the focus of intense research recently. Though the exact influence of gene is still not clear, molecular genetic study of AMD is very important for understanding the pathogenesis. Current researches in this field are reviewed.