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OCLI's Rockville Centre Office Now Offers Two Revolutionary Tests for Advanced Macular Degeneration

Two New Genetic Tests Assess Risk for Advanced Age-Related Macular Degeneration, A Leading Cause of Blindness in America

Ophthalmic Consultants of Long Island’s (OCLI) Rockville Centre office is now offering RetnaGene™ AMD and RetnaGene™ LR (Lifetime Risk), two highly specialized genetic tests for assessing an individual’s risk for advanced age-related macular degeneration (AMD). “AMD has a large genetic predisposition,” said Eric Sigler, MD and retina specialist at OCLI. “About 70% of the risk for advanced macular degeneration that involves severe visual loss has a genetic predisposition for AMD.”

Age-related macular degeneration affects approximately 10-15 million Americans and is a leading cause of blindness in individuals 60 years old and older. It damages the tissue in the central part of the eye called the macula. This can cause a blind spot in the central field of vision, which can worsen over time. There are two forms of AMD: dry and wet. Dry AMD is the more common form of the disease and usually develops slowly over time. “In some patients, early and intermediate dry AMD may progress to advanced forms of AMD which can then lead to severe central vision loss,” explained Dr. Sigler. “Delaying treatment of AMD increases the likelihood of vision loss or failure to improve vision, however, early risk assessment and a proper course of treatment may help or delay the progression.”

An individual’s genetic risk may depend on the number of high-risk genes associated with AMD, which are inherited from each parent. In addition to genetics, other factors that affect a patient’s risk for AMD include age, lifestyle habits such as smoking and poor diet, and exposure to UV light. Both RetnaGene AMD and RetnaGene LR tests are done with a simple cheek swab by the doctor.

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“We are very excited to offer RetnaGene to our patients,” said Nikola Ragusa, MD and board certified ophthalmologist at OCLI. “It’s a simple, minimally invasive test that is done in our office and takes about 60 seconds.”

The RetnaGene AMD test is typically given to Caucasian patients age 55 or older with early or intermediate AMD. It accurately predicts a patient’s individual risk for disease progression from dry to wet AMD within 2, 5 and 10 years by evaluating genetic information, severity of disease, age, and smoking status. “Ten to fifteen percent of patients that present initially with dry AMD convert to wet AMD,” said Dr. Sigler. “It is very important to understand this risk because the progression to wet AMD can cause sudden and permanent vision loss. “

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The RetnaGene LR test is typically administered to Caucasian patients, 55 or older or for younger patients with a family history of AMD. RetnaGene LR accurately predicts the lifetime risk for developing any form of advanced AMD (wet or dry) by evaluating genetic information and age. Identifying high-risk patients earlier in life may allow for better patient management with the goal of delaying onset of disease and preserving vision.

“Patients at increased risk may choose to initiate early antioxidant supplementation, modify smoking habits, or increase the number of retina specialist visits,” explained Dr. Sigler. “As genetic markers become important indicators of response to macular degeneration treatments, individual tailored therapy will be improved.”

Both tests were developed and validated by Sequenom, Inc., a life sciences company providing innovative genetic analysis solutions. Recently, it was announced that Nicox, Inc., a subsidiary of Nicox, S.A., an international ophthalmic company, launched the Sequenom Laboratories’ RetnaGene™ portfolio of laboratory-developed genetic tests in the United States. For more information on Nicox or its products please visit www.nicox.com. For more information about Sequenom Laboratories, please visit www.sequenom.com.

These tests are not covered by insurance companies and there is an out-of-pocket expense. To learn more about RetnaGene AMD and RetnaGene LR, please call 1-866-SEE OCLI (1-866-733-6254) or visit www.ocli.net

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