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


    Genetic factors add to risk

    This means that for common diseases, such as AMD, many environmental and genetic factors combine in a patient to give rise to the disease, putting the patient at increased risk. Conversely, in rare Mendelian genetic diseases, the genotype at a specific locus is more powerful than those in common diseases, and can be safely said to “cause” the disease, Dr. Stone said.

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    An example of the latter was found in a recent study of North Carolina macular dystrophy that reported identification of the gene responsible for the disease. Researchers found that a single nucleotide variance, 14,000 base pairs upstream from PRDM13, could interrupt normal development of the macula and cause North Carolina macular dystrophy (Small et al. Ophthalmology. 2016;123:9-18; DOI: http://dx.doi.org/10.1016/j.ophtha.2015.10.006).

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    A person born with this variant is more than 10,000 times likely to develop the disease than a random person of the same age in the general population, Dr. Stone said.

    This is in contrast to a high-risk person with gene CFH/ARMS2, who is perhaps 5 to 10 times more likely to develop AMD compared with an age-matched person in the general population.

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    Though genetic testing is useful in Mendelian diseases, clinicians accurately can predict the risk of visual loss from AMD, and genetic testing should not be used routinely to determine that risk, he emphasized.

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