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Genetic markers may indicate increased risk of AMD in younger patients
LAS VEGAS — Younger patients with intermediate or advanced age-related macular degeneration showed a greater genetic risk for the disease than older, phenotype-matched counterparts, according to a study presented here.
“This inverse relationship between age and genetic risk increases with disease severity. So, a younger patient with higher genetic risk is more likely to be seen in the more advanced disease population,” Carl C. Awh, MD, said at the American Society of Retina Specialists meeting.
Carl C. Awh
The retrospective study included 17,583 patients who underwent genetic testing for AMD with the Macula Risk test, which screens for CFH, ARMS2, C3 and ND2 markers, as well as smoking history.
Patients were grouped according to Age-Related Eye Disease Study (AREDS) disease classification, genetic risk scores and age.
Study results showed that 17% of patients were at level 3 risk, 2% were at level 4, and 1% were at level 5.
“In patients with mild disease, the average age of those with the highest genetic risk was 2 years younger than those with lower genetic risk,” Awh said. “It’s a small but statistically significant difference.”
Differences in genetic risk scores between patients with AREDS stage 3 and stage 4 disease were attributed to differences in CFH and ARMS2 risk allele frequency, Awh said.
“The use of genetic testing is a moving target. But fortunately this target seems to be moving in a positive direction,” he said.
Further refinement of genetic testing for AMD is warranted, Awh said.
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Disclosure: Awh is a consultant to ArcticDX and has a financial interest in the company.