Macular Degeneration Treatment sees New AdvancementsCreated June 28, 2013 by Jesse L. in Events, Retina, Retina Specialist, Retina Stories
Retina Institute of California Advances Genetic Diagnostics for Macular Degeneration Treatment (AMD).
–RetnaGene testing now considered integral to Age-related Macular Degeneration treatment paradigm.
“For decades, we have been waiting for the day when genetic science would finally jump out of the laboratory and into our clinics, where we can actually use it to help our patients. Now that day has arrived. RetnaGene testing represents the leading edge of clinically impactful genetic medicine in ophthalmology. This technology will fundamentally improve our ability to treat and prevent vision loss from AMD. It is a very exciting time for doctors and patients alike.”
–Joshua Hedaya, M.D.
RetnaGene AMD is a laboratory-developed genetic test to evaluate the risk of a patient with early or intermediate AMD progressing to advanced choroidal neovascular disease within 2, 5, and 10 years.
The reported risk scores for developing CNV are based on four risk factors:
- Genotype: the genetic profile of 12 disease-associated single nucleotide polymorphisms (SNPs)
- Phenotype: baseline simplified severity scale grade1 (as defined by the Age-Related Eye Disease Study2 [AREDS])
- Environment: smoking status
With this information, we are able to customize our approach to monitoring and treatment for each individual patient based on their reported risk scores for disease progression. This holds tremendous advantage when managing a condition, such as Age-related Macular Degeneration, in which loss of vision is often severe, unpredictable, and variably responsive to treatment. Efficient monitoring of this chronic disease, wherein patients at higher risk are seen more frequently than those at lower risk, will greatly enhance our ability to prevent loss of vision. In addition, we can more safely reduce the screening burden for lower risk patients, many of whom may have difficulty complying with frequent office visits. Similarly, this additional genetic data point allows for a more informed decision regarding initiation of treatment in patients with equivocal findings on standard diagnostic tests.
For further information about RetnaGene or to refer a patient to RIC for Age-related Macular Degeneration screening, please contact our appointment center at 800-898-2020. Testing is available at all RIC locations, and is covered by most insurance providers. Specimens are collected via buccal swab and results are typically available within days.