Gene Expression In Macular Degeneration

National Eye Institute

Investigators

Linked publications & trials

Abstract

Age-related macular degeneration (AMD) represents the most common cause of blindness in patients over the age of 60. While both hereditary and environmental factors appear to play a role in the pathogenesis of the disease, no common genetic mutations have been identified. Based on laboratory evidence, one proposed hypothesis for this disease focuses on an altered injury response program of the retinal pigment epithelium and its interaction with altered macrophage response. To study this hypothesis, a clinical trial has been initiated - ?A Pilot Study Examining Gene Expression Patterns in Circulating Monocytes and Dermal Fibroblasts in Patients with Age-related Macular Degeneration?. This ongoing clinical trial is intended to test the hypothesis that patterns of gene expression involved in wound repair, cell injury and death as well as macrophage function are altered in the eyes of patients with AMD and these genetic alterations can be detected in peripheral sites other than the eye. Biopsied skin fibroblasts and circulating monocytes from patients with various forms of age-related macular degeneration are being obtained and gene expression patterns are being examined through various techniques including polymerase chain reaction, Northern blot analysis, differential display and microarray technology. The genetic expression patterns from AMD patients are being compared to age-matched control patients. The primary outcome of this study will be to determine if specific gene expression patterns can be identified which correlate with AMD.