Characterization of novel genes expressed in the retinal pigment epithelium (RPE) and assessment of their role in age-related macular degeneration

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Age-related macular degeneration (AMD) is the most common cause of legal blindness in industrialized countries and predominantly affects the elderly population over 75 years of age. It is intimately related to the formation of drusen that consist of extracellular debris produced by the retinal pigment epithelium (RPE). Although the primary events in AMD pathogenesis are not well understood, it is generally agreed that the deterioration of the highly metabolic RPE gives rise to macular degeneration. The RPE is a single layer of cells that play a crucial role in the continual support and renewal of the rod and cone photoreceptors. To carry out these functions, the RPE is thought to require a large number of proteins some of which may be unique to this cell type. Despite its outstanding importance in normal ocular metabolism and disease, little is known about the biochemical basis of RPE function and dysfunction. It is therefore the aim of our project to identify and characterize genes specifically or abundantly expressed in the RPE. In addition, we plan to search for sequence variations in these genes in a well-defined group of AMD patients and ethnically and agematched controll individuals. This study is expected to contribute to our understanding of the genetic basis of RPE function and to clarify the role of RPE-related genes in the predisposition to AMD.