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

This study establishes a clinical database and biospecimen repository related to a variety of retinal conditions, particularly age-related macular degeneration and diabetic retinopathy. In secondary studies, these may be used for the identification of novel factors relevant to the pathogenesis, progression, and response to treatment of these retinal conditions.

Objectives: This study provides for the standardized collection of longitudinal clinical data and for serial collection, processing, and storage of a variety of biospecimens. In secondary studies, the clinical data set and biospecimen repository may be used to identify 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 200 participants with age-related macular degeneration (AMD), 125 participants with diabetic retinopathy, up to 200 participants with other retinal diseases, and 125 participants without any retinal disease.

Design: This protocol specifies prospective collection of longitudinal clinical data related to multiple retinal diseases and suitable controls incorporating:

A standardized testing schedule; and
Collection of biospecimens for research purposes, for which sampling does not incur more than minimal risk to participants. In secondary studies, outcome Measures 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.

In the reporting period, we continued longitudinal testing and data collection for participants and enrolled a small number of additional participants.