March 2012
Volume 53, Issue 14
ARVO Annual Meeting Abstract  |   March 2012
Initial Clinical Experience With RetnaGene AMDTm, A Genetic Test For Prediction Of CNV
Author Affiliations & Notes
  • Briana L. Sawyer
    Ophthalmolgy, John A. Moran Eye Center, Salt Lake City, Utah
  • Deborah Y. Harrison
    Ophthalmolgy, John A. Moran Eye Center, Salt Lake City, Utah
  • Lorah Perlee
    Sequenom, Inc, San Diego, California
  • Paul S. Bernstein
    Ophthalmolgy, John A. Moran Eye Center, Salt Lake City, Utah
  • Footnotes
    Commercial Relationships  Briana L. Sawyer, Sequenom CCM (R); Deborah Y. Harrison, None; Lorah Perlee, Sequenom CCM (E); Paul S. Bernstein, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science March 2012, Vol.53, 6512. doi:
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      Briana L. Sawyer, Deborah Y. Harrison, Lorah Perlee, Paul S. Bernstein; Initial Clinical Experience With RetnaGene AMDTm, A Genetic Test For Prediction Of CNV. Invest. Ophthalmol. Vis. Sci. 2012;53(14):6512.

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      © ARVO (1962-2015); The Authors (2016-present)

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Identifying patients at high risk of developing CNV provides the clinician with an opportunity for more targeted education on actions to take if patients notice changes in their vision. Patients who develop CNV benefit from more timely diagnosis and early treatment.RetnaGene AMD (Sequenom CCM, San Diego, CA) is a genetic test to assess the risk of developing CNV. The test generates a patient risk score and a probability of developing CNV based on 13 genetic markers with validated association with AMD. The goal of this study is to review early clinician and patient experiences with RetnaGENE AMD in a referral retina practice.


Retrospective clinical case series. Patient demographics were recorded. Other clinical information included: staging of disease, age at presentation, and, when available, family history of disease. The length of time from initial diagnosis to genetic testing was noted. Results of RetnaGene AMD testing were reviewed in order to find correlations between demographic information and test results.


We reviewed our first 28 patients who had undergone RetnaGene AMD testing. Our population was largely Caucasian, and 77% of patients were female. The average patient age was 78.96 years, and the ages ranged from of 61-87 years. All patients tested had dry AMD with clinical presentations that ranged from early AMD to geographic atrophy. The average probability to develop CNV was 69.46% with an average risk score of 0.97, revealing the majority of patients in our clinical practice are at higher risk to develop CNV, based on RetnaGene AMD test results alone.


Current utilization of this test in our clinical practice involves educating AMD patients about their risk and helping clinic staff triage patients into objective risk categories. Overall, patients seem satisfied to know their results and anecdotally report that this information helps motivate them to comply with important health practices to lower their risk of CNV. It is still too early to know if the ultimate clinical utility of this test will change practice patterns, influence earlier intervention or affect clinical outcomes for patients who develop CNV.

Keywords: age-related macular degeneration • retina • genetics 

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