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Drusen Deposit Photoreceptor Layer of the Retina DNA Gene Array

The Center for the Study of Macular Degeneration (CSMD)

A biomedical research unit dedicated to advancing basic biomedical research into the cellular, molecular, and genetic factors that contribute to the human ocular diseases that are known as macular degeneration.

In the News

UCSB Center for the Study of Macular Degeneration Shares in $14,800,000 Research Grant
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Genes tied to age-related macular degeneration confirm the notion that inflammation helps destroy the central area of the retina in this vision disorder.
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Evidence for an inflammatory process in age-related macular degeneration gains new support.
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International Research Team of Scientists at the University of Iowa, Columbia University, the University of California at Santa Barbara, Queens University, Belfast, and the National Cancer Institute (NIH) Discover Genetic Link between Age-related Macular Degeneration and Rare Kidney Disease.
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Mutations in the fibulin family of extracellular matrix proteins have been linked to macular degeneration. Previously, mutations in the fibulin 3 and fibulin 6 genes were shown to cause two forms of inherited macular degeneration (Stone et al, 1999; Schultz et al, 2003). Now, a number of missense mutations in the fibulin 5 gene have been implicated in the highly prevalent age-related form of macular degeneration by scientists at the University of Iowa (Stone et al, 2004).
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For further information about the relationship between age-related macular degeneration and abnormalities in the extracellular matrix.
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A 10-year follow up of the incidence and progression of retinal drusen, retinal pigmentary abnormalities, and signs of late age-related maculopathy was reported on 2,764 people living in Beaver Dam, WI who participated in the Beaver Dam Eye Study. The study's findings indicated that large numbers of hard drusen predict the incidence of soft drusen and pigmentary abnormalities, and that the presence of the latter lesions significantly increases the risk for the development of geographic atrophy and exudative macular degeneration.
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Recent strides in identifying the molecular composition of drusen have led to the conclusion that drusen are a by-product of chronic local inflammation in the aging eye. These findings suggest that those forms of AMD characterized by the accumulation of drusen could benefit from therapeutic approaches that are designed to attenuate the local inflammatory events that precede the development of the more advanced stages of AMD.
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Studies of over 500 pairs of identical and fraternal twins by genetic epidemiologists in Britain and at the Georgia Prevention Institute in Augusta, Georgia have confirmed that there is a significant genetic component in AMD. The study showed that concordance in the development of AMD among twins was nearly 40% in identical twins and about 20% in fraternal twins. The study also showed that the most significant inherited feature is the presence of large numbers of drusen.
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Center for the Study of Macular Degeneration
University of California Santa Barbara
Last Modified 21-Aug-06