National Eye Institute Biorepository for Retinal Diseases

This protocol establishes a clinical database and biospecimen repository for potential use in subsequent research projects approved by the NIH IRB, such as the identification of novel factors relevant to the pathogenesis, progression, and response to treatment of a variety of retinal conditions, particularly age-related macular degeneration (AMD) and diabetic retinopathy and their associated systemic correlates of disease. Objectives: This protocol 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 may be used in subsequent potential research studies for purposes including 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 to accrue up to 200 participants with AMD, 125 participants with diabetic retinopathy, 200 participants with other retinal diseases, and 125 participants without any retinal disease. A total of up to 650 participants may be enrolled. Design: This protocol is designed around prospective observation of multiple retinal diseases and suitable controls incorporating: Defined testing and ocular imaging on a standardized follow-up schedule; and Collection of biospecimens for research purposes for which sampling does not incur more than minimal risk to participants. Outcome Measures: Potential outcome measures for subsequent studies using this data set may include the 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 the characterization of new experimental models of eye health and disease.