NEI Intramural Biorepository for Retinal Diseases (12-EI-0042)

本研究建立了一个临床数据库和生物标本库，用于识别与各种视网膜疾病，特别是年龄相关性黄斑变性和糖尿病性视网膜病变的发病机制、进展和治疗反应相关的新因素，以及它们相关的系统性疾病。目的：本研究为纵向临床数据的标准化收集和各种生物标本的连续收集、处理和储存提供了依据。临床数据集和生物标本库将用于鉴定新的遗传因素、生物标志物和实验模型，这些遗传因素、生物标志物和实验模型与视网膜各种疾病及其相关的系统性疾病的发病机制、进展和治疗反应有关。研究人群：我们计划纳入500名年龄相关性黄斑变性（AMD）患者、300名糖尿病视网膜病变患者、多达1000名其他视网膜疾病患者和500名无视网膜疾病患者。设计：这是一项针对多种视网膜疾病和合适对照的前瞻性观察研究，包括：1。眼科疾病的标准护理管理，包括标准化的随访和检测计划；和2。为研究目的而采集生物标本，采样对参与者的风险不会超过最低限度。结果测量：表型的关键参数（如视力和眼部成像的视网膜特征）与遗传变异和从生物标本中鉴定的其他生物标志物的相互作用；眼睛健康和疾病的新实验模型的特征。

This study establishes a clinical database and biospecimen repository for identification of novel factors relevant to the pathogenesis, progression, and response to treatment of a variety of retinal conditions, particularly age-related macular degeneration and diabetic retinopathy, and their associated systemic correlates of disease. Objectives: This study provides for standardized collection of longitudinal clinical data and for serial collection, processing, and storage of a variety of biospecimens. The clinical data set and biospecimen repository will be used for identification of novel genetic factors, biomarkers, and experimental models associated with pathogenesis, progression, and response to treatment for various conditions of the retina and their associated systemic correlates of disease. Study Population: We plan accrual of 500 participants with age-related macular degeneration (AMD), 300 participants with diabetic retinopathy, up to 1,000 participants with other retinal diseases, and 500 participants without any retinal disease. Design: This is a prospective observational study of multiple retinal diseases and suitable controls incorporating: 1. Standard of care management of eye diseases with a standardized follow-up and testing schedule; and 2. Collection of biospecimens for research purposes for which sampling does not incur more than minimal risk to participants. Outcome Measures: Interaction of key parameters of phenotype (such as visual acuity and retinal features on ocular imaging) with genetic variants and other biomarkers identified from biospecimens; and characterization of new experimental models of eye health and disease.