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American Academy of Ophthalmology Discourages Genetic Testing for Age-Related Macular Degeneration

Ophthalmologists Warn That Tests May Not Accurately Predict Predisposition to Complex Eye Diseases

CHICAGO, IL -- (Marketwire) -- 11/11/12 -- The American Academy of Ophthalmology today reiterated its position that at this time its member eye physicians and surgeons should avoid genetic testing for complex eye disorders such as age-related macular degeneration and late-onset primary open angle glaucoma. The organization discourages patients from undergoing such testing until treatment or surveillance strategies can be shown to be of benefit to individuals with specific disease-associated genotypes and urges medical personnel to confine the genotyping of such patients to research studies.

The Academy believes that currently marketed genetic tests for these eye disorders offer little benefit or additional insight regarding whether a patient is significantly predisposed to a particular disease. Furthermore, the organization strongly believes that a comprehensive eye exam is significantly more effective than any currently available genetic test for identifying treatable disease. Edwin Stone, M.D., Ph.D., an ophthalmologist, geneticist and head of the Academy's genetic testing task force, will provide his assessment of genetic testing research today during a news conference at the 116th Annual Meeting of the American Academy of Ophthalmology, jointly conducted this year with the Asia-Pacific Academy of Ophthalmology.

Approximately 9.1 million Americans have age-related macular degeneration(1), a potentially blinding disease that damages a person's central vision. AMD is caused by multiple factors, including lifestyle choices such as smoking and diet, as well as genetics. Although several genotypes are associated with increased risk for AMD, at this time, genetic testing provides no proven advantage in preventing or treating the disease. The increase in marketing directly to the public by genetic testing companies has prompted the Academy to reaffirm its position on the topic. The Academy announced its genetic testing guidelines earlier this year. They are re-published in the November issue of Ophthalmology, the journal of the American Academy of Ophthalmology.

Dr. Stone's new analysis further confirms that current genetic tests for AMD are flawed and cannot reliably help predict clinical outcomes in AMD patients.

"In the future, genetic tests will likely allow clinicians to provide mechanism-specific treatments to patients at high risk for some molecular forms of AMD," said Dr. Stone. "At the present time, however, the cost and risks far outweigh any benefit. Three things need to occur before genetic testing will be useful in AMD diagnosis and treatment: clinically proven evidence that such tests significantly improve the outcome of patients; significantly lower testing costs; and sufficient infrastructure within the medical community to allow proper counseling of the patients about their genetic testing results. Until then, combining a patient's family history of eye disease with a standard eye exam will remain the best way to determine his or her risk for AMD."

At this point researchers' understanding of genetic components and how they interact with disease factors in AMD is far from complete. The Academy will continue to recommend that, until clinical trials can demonstrate that AMD patients with specific genotypes benefit from specific types of therapy or exam regimens, ophthalmologists should refrain from ordering such testing for AMD patients, or patients with a family history of AMD.

The 116th Annual Meeting of the American Academy of Ophthalmology is in session November 10-13 at McCormick Place in Chicago, Ill. It is the world's largest, most comprehensive ophthalmic education conference. More than 25,000 attendees and 500 companies gather each year to showcase the latest in ophthalmic technology, products and services. This year's meeting is being held in partnership with the Asia-Pacific Academy of Ophthalmology. To learn more about the place Where All of Ophthalmology Meets, visit

Note to media: Contact Media Relations to arrange interviews with experts

About the American Academy of Ophthalmology
The American Academy of Ophthalmology is the world's largest association of eye physicians and surgeons -- Eye M.D.s -- with more than 32,000 members worldwide. Eye health care is provided by the three "O's" -- ophthalmologists, optometrists, and opticians. It is the ophthalmologist, or Eye M.D., who can treat it all: eye diseases, infections and injuries, and perform eye surgery. For more information, visit The Academy's EyeSmart® program educates the public about the importance of eye health and empowers them to preserve healthy vision. EyeSmart provides the most trusted and medically accurate information about eye diseases, conditions and injuries. OjosSanos™ is the Spanish-language version of the program. Visit or to learn more.

(1) Macular Degeneration Association -

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