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首页> 外文期刊>Ophthalmic genetics >Age-related macular degeneration with discordant late stage phenotypes in monozygotic twins.
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Age-related macular degeneration with discordant late stage phenotypes in monozygotic twins.

机译：单卵双胞胎中年龄相关性黄斑变性与晚期表型不一致。

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摘要

PURPOSE: Age-related macular degeneration (AMD) is a complex disease caused by genetic and environmental factors. Monozygotic twins with late stage AMD provide an opportunity to evaluate the role of environmental factors on a genetically uniform background. METHODS: Monozygosity was determined in four twin pairs by genotyping 15 highly polymorphic tetranucleotide repeat markers. Clinically, the monozygotic twin pairs were evaluated by ophthalmologic examination, fundus autofluorescence (FAF) imaging, and, upon suspicion of choroidal neovascular membranes, by fluorescein angiography. Twin pairs were followed over a period of 4-8 years. RESULTS: Genetically confirmed monozygotic twins with early stages of AMD reveal striking symmetry of early macular pathology. Upon progression to late stage AMD each twin pair developed a discordant phenotype with respect to disease onset and specific phenotype as choroidal neovascularization (CNV) and geographic atrophy (GA). CONCLUSIONS: Genetic risk variants are known to predispose to the development of AMD. Course and visual outcome of the disease, however, appear to be influenced by environmental factors rather than genetic determinants.
机译：目的：年龄相关性黄斑变性（AMD）是由遗传和环境因素引起的复杂疾病。晚期AMD的单卵双胞胎为评估环境因素在遗传上均一的背景中的作用提供了机会。方法：通过对15个高度多态的四核苷酸重复标记进行基因分型，确定4对双胞胎的单合性。临床上，通过眼科检查，眼底自发荧光（FAF）成像，以及怀疑是脉络膜新生血管膜的情况下，通过荧光素血管造影术评估了单卵双胞胎对。对双胞胎进行了4-8年的随访。结果：经遗传学证实具有早期AMD的单卵双胞胎显示出早期黄斑病理的惊人对称性。在进展到晚期AMD时，每对双胞胎在疾病发作和特定表型方面出现不一致的表型，如脉络膜新血管形成（CNV）和地理萎缩（GA）。结论：遗传风险变异体易患AMD。然而，疾病的病程和视觉结果似乎受环境因素而非遗传决定因素的影响。

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