This study establishes a clinical database and biospecimen repository for 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 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 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 100 participants with age-related macular degeneration (AMD), 200 participants with diabetic retinopathy, up to 200 participants with other retinal diseases, and 150 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: Outcome measures 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 fiscal year 2019, we continued follow up for participants, and enrolled a small number of additional participants. Present accrual includes over 490 participants. Dr. Nida Sen (AI) got approval for a proposal for analysis of color fundus images from participants in the control cohort for use in a deep-learning study on birdshot chorioretinopathy (no publication to date).
| Wang, Herui; Shepard, Matthew J; Zhang, Chao et al. (2018) Deletion of the von Hippel-Lindau Gene in Hemangioblasts Causes Hemangioblastoma-like Lesions in Murine Retina. Cancer Res 78:1266-1274 |
| Bakshi, N K; Fahle, G A; Sereti, I et al. (2012) Cytomegalovirus retinitis successfully treated with ganciclovir implant in a patient with blood ganciclovir resistance and ocular ganciclovir sensitivity. Eye (Lond) 26:759-60 |
