Zack D J, Dean M, Molday R S, Nathans J, Redmond T M, Stone E M, Swaroop A, Valle D, Weber B H
Departments of Ophthalmology, Molecular Biology and Genetics, and Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Mol Vis. 1999 Nov 3;5:30.
Age-related macular degeneration (AMD) is increasingly recognized as a complex genetic disorder in which one or more genes contribute to an individual's susceptibility for developing the condition. Twin and family studies as well as population-based genetic epidemiologic methods have convincingly demonstrated the importance of genetics in AMD, though the extent of heritability, the number of genes involved, and the phenotypic and genetic heterogeneity of the condition remain unresolved. The extent to which other hereditary macular dystrophies such as Stargardts disease, familial radial drusen (malattia leventinese), Best's disease, and peripherin/RDS-related dystrophy are related to AMD remains unclear. Alzheimer's disease, another late onset, heterogeneous degenerative disorder of the central nervous system, offers a valuable model for identifying the issues that confront AMD genetics.
年龄相关性黄斑变性(AMD)越来越被认为是一种复杂的遗传疾病,其中一个或多个基因会影响个体患该病的易感性。双胞胎和家族研究以及基于人群的遗传流行病学方法已令人信服地证明了遗传学在AMD中的重要性,尽管遗传力的程度、涉及的基因数量以及该疾病的表型和遗传异质性仍未得到解决。其他遗传性黄斑营养不良,如Stargardt病、家族性放射状玻璃膜疣(莱文廷斯病)、Best病和外周蛋白/RDS相关营养不良与AMD的关联程度仍不清楚。阿尔茨海默病是另一种中枢神经系统迟发性、异质性退行性疾病,为识别AMD遗传学所面临的问题提供了一个有价值的模型。