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About
This study will identify genes that are associated with inflammation or degeneration of the retina (membrane lining the back of the eye that relays vision signals to the brain). It is thought that many retinal conditions are due to an altered immune system and are based on how the person s genes function and communicate.
People 4 years of age or older who have a retinal condition such as uveitis, age-related macular degeneration or diabetic retinopathy may be eligible for this study. Healthy volunteers and healthy people who have a family member with one of these conditions are also eligible. Patients with inherited retinal degeneration are excluded.
Participants undergo the following tests and procedures:
Participants may also undergo one or more of the following tests:
Full description
Objective:
This project will study epigenetic mechanisms, the inheritance of (both Mendelian and complex) and biomarkers of Immune Mediated Eye Diseases, in families of many nationalities and ethnic backgrounds in order to identify the genes that, when genetically mutated or epigenetically regulated, cause immune mediated eye disease, and the pathophysiology through which they act.
Study Population: The number of participants to be enrolled has no logical upper limit, but will be at 1,000 during the next five years. Race, age and sex matched controls, anonymous volunteers will also be needed to donate a blood sample. The study consists of ascertaining individuals and families with multiple individuals, if possible, affected by immune mediated ocular disease.
Design:
These patients and their families will undergo detailed ophthalmologic examinations and, where indicated, additional non-investigational examinations to characterize their ocular status. A blood sample will be collected from each individual and immunophenotyped using Flow Cytometry. Serum will be isolated for testing serological markers. One or more sub-populations of cells (including but not limited to CD4 plus and CD8 plus T cells, B cells, CD14 plus monocytes, dendritic cells, NK cells, neutrophils and granulocytes) will be isolated. DNA, RNA and chromatin may be isolated for further gene expression profiling and epigenetic studies. Association of genetic or epigenetic changes with ocular inflammatory disease in patients and their families will be identified using one of the techniques including but not limited to DNA-seq, BS-seq, MeDIP-seq, ChIP-seq, RNA-seq, microarray, PCR, and multicolor Flow Cytometry staining. DNA samples from the AREDS study, held under the DCR/NEI Repository protocol (07-EI-0168), will also be used for analysis. If necessary, the gene product or blood sample will be characterized biochemically.
Outcome Measures:
Immunophenotyping, gene expression and epigenetic changes will be reported using Statistical analysis performed using the t test or ANOVA and post-hoc testing with Fisher s least significant difference test. Unless otherwise noted, results are presented as the mean SEM. Biochemical, metabolic, and physiological effects will be individualized to the specific assay
Enrollment
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Inclusion and exclusion criteria
Participants with the following will be recruited:
EXCLUSION CRITERIA:
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Data sourced from clinicaltrials.gov
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