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

这项研究建立了一个临床数据库和生物谱系资料库，用于识别与各种视网膜疾病的发病机制、进展和治疗反应相关的新因素，特别是年龄相关性黄斑变性和糖尿病视网膜病变，以及它们与疾病的相关系统相关性。目的：这项研究提供了纵向临床数据的标准化收集和各种生物样本的连续收集、处理和存储。临床数据集和生物谱库将用于识别与各种视网膜状况的发病机制、进展和治疗反应相关的新遗传因素、生物标记物和实验模型，以及它们与疾病的相关系统相关。研究人群：我们计划500名患有老年性黄斑变性(AMD)的参与者，300名患有糖尿病视网膜病变的参与者，多达1000名患有其他视网膜疾病的参与者，以及500名没有任何视网膜疾病的参与者。设计：这是一项针对多种视网膜疾病和合适的对照的前瞻性观察性研究，包括：1.眼部疾病的护理管理标准和标准化的随访和检测计划；2.为研究目的收集生物标本，采样对参与者的风险不超过最低限度。观察指标：表型的关键参数(如视力和眼部影像上的视网膜特征)与遗传变异和其他生物标记物之间的相互作用；以及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.