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    Two recent genetic discoveries may offer hope for patients with advanced AMD

     

    Genetic association

    CFH and C2/CFB are two of the genetic loci that have the greatest statistical association with AMD, Dr. Stone explained. These loci encode members of the complement cascade, which has focused a great deal of attention on the complement pathway.

    Research has shown clearly that the membrane attack complex surrounds the choriocapillaris, Dr. Stone said.

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    The membrane attack complex consists of choroidal deposits that precede drusen formation in most eyes with AMD. However, they are more abundant in eyes with high-risk complement H genotypes.

    Dr. Stone shared some data from a study of the Iowa AMD complex cohort that indicated some features of AMD genetics are often overlooked.

    When 927 AMD patients were compared with 305 patients with normal eyes, all of whom were aged in the low-to-mid 80s, there was a strong association seen with the ARMS2, CFH, and C2/CFB genes. However, when eyes with neovascular AMD were compared with those with dry AMD, no such association was seen.

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    “Thus, these loci do not contribute to choroidal neovascularization [CNV] directly, nor are they good predictors of which specific AMD patients will develop CNV,” Dr. Stone said. “These triggers remain to be discovered.”

    The relative risks of the strongest AMD loci are relatively modest compared with disease-causing mutations in some Mendelian macular diseases, such as autosomal recessive/dominant Stargardt disease, Best disease, and North Carolina macular dystrophy, among others, he explained.

    Other factors add risk

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