MOLECULAR DEFECT IN GYRATE ATROPHY OF CHOROID AND RETIN

脉络膜和视网膜回旋萎缩的分子缺陷

• 批准号: 3260898
• 负责人: VIVIAN E SHIH
• 金额: $ 22.6万
• 依托单位: MASSACHUSETTS GENERAL HOSPITAL
• 依托单位国家: 美国
• 财政年份: 1984
• 资助国家: 美国
• 起止时间: 1984-12-01 至 1992-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/3260898
• 关键词: DNA; affinity chromatography; alleles; aminoacid; autosomal recessive trait; biological polymorphism; chromosome disorders; electrophoresis; fibroblasts; genetic library; genetic mapping; genetic markers; genome; human tissue; lymphoblast; messenger RNA; mitochondria; molecular cloning; molecular pathology; mutant; nucleic acid sequence; nutrition related tag; ornithine oxoacid transaminase; ornithinemia; pyridoxine; radioassay; restriction fragment length polymorphism; restriction mapping; structural genes; tissue /cell culture; vitamin therapy

This proposal is for completing an ongoing study that aims to determine risk factors for the development of neovascular/exudative (N/E), as well as for atrophic (non-exudative) macular degeneration. Age-related macular degeneration (AMD) is a leading cause of blindness in the United States. About 90% of severe visual loss caused by AMD is due to the N/E form of the disease. Because treatment is available for certain patients with N/E AMD, it is important to identify persons at high risk who can be diagnosed at an early stage of the disease when treatment is most effective. Previous studies have suggested associations of N/E and/or atrophic AMD with factors such as systemic hypertension, cardiovascular disease, and nutritional factors, but the evidence is inconclusive. The completed study will: 1) evaluate the hypothesis that systemic hypertension and cardiovascular disease are related to an increased risk of N/E or atrophic AMD, 2) evaluate the contribution of nutritional status (e.g., Vitamins E, A, C, selenium, and carotene) to the risk of developing N/E or atrophic AMD, and 3) evaluate the contribution of various other factors to the risk of developing N/E or atrophic AMD and determine whether these factors differ among individuals with N/E and atrophic disease. The variables under study include iris color, refractive error, family history of AMD, cigarette smoking, light exposure, and occupational exposures. This information is being obtained by a case-control study consisting of ophthalmology patients aged 50-79 years, who are divided into three groups of similar age and sex consisting of 300 patients each: Group I, newly diagnosed patients with definite N/E AMD, Group II, newly diagnosed patients with definite atrophic AMD, and Group III, control patients without evidence of macular disease. All patients are interviewed and have blood pressure, visual acuity, refractive error, and hand grip measured, fundus and iris photographs taken, and blood drawn for determination of cholesterol, triglycerides, HDL, LDL, and Vitamins E, A, C, selenium, glutathione peroxidase, and carotene. Information on past medical, occupational, dietary , and family history, as well as other factors, is obtained by patient interview. Medical histories are validated by the treating physicians; family histories are validated by contracting family members and their eye examiners. Estimates of the risks involved will be obtained from comparisons of the case groups and controls.

该提案是为了完成一项正在进行的研究，旨在确定 新生血管/渗出性 (N/E) 发展的危险因素，以及 至于萎缩性（非渗出性）黄斑变性。 年龄相关性黄斑 变性（AMD）是美国失明的主要原因。 大约 90% 由 AMD 引起的严重视力丧失是由于 N/E 形式造成的 这种疾病。 因为某些 N/E 患者可以接受治疗 AMD，识别可诊断的高危人群很重要 在疾病的早期阶段，治疗最有效。 先前的研究表明 N/E 和/或萎缩性 AMD 之间存在关联 与全身性高血压、心血管疾病等因素有关 营养因素，但证据尚无定论。 已完成的 研究将：1）评估系统性高血压和 心血管疾病与 N/E 或萎缩风险增加有关 AMD，2) 评估营养状况的贡献（例如维生素 E、 A、C、硒和胡萝卜素）会增加发生 N/E 或萎缩的风险 AMD，以及 3) 评估各种其他因素对风险的贡献 发展 N/E 或萎缩性 AMD 并确定这些因素是否 患有 N/E 和萎缩性疾病的个体之间存在差异。 变量 正在研究的内容包括虹膜颜色、屈光不正、AMD家族史、 吸烟、光照和职业暴露。 该信息是通过一项病例对照研究获得的，该研究包括 年龄50-79岁的眼科患者分为三组 年龄和性别相似的患者，每组 300 名患者：第一组，新 确诊患有明确 N/E AMD、II 组、新诊断的患者 患有明确萎缩性 AMD 的患者和第 III 组对照患者 没有黄斑疾病的证据。 所有患者均接受访谈并 有血压、视力、屈光不正和握力 测量、拍摄眼底和虹膜照片并抽血 测定胆固醇、甘油三酯、HDL、LDL 和维生素 E、A、 C、硒、谷胱甘肽过氧化物酶和胡萝卜素。 过去的信息 医疗、职业、饮食和家族史，以及其他 因素，是通过患者访谈获得的。 病史是 经主治医生验证；家族史经过验证 签约家庭成员及其眼科检查员。 的估计 所涉及的风险将从病例组的比较中获得 控制。