Why Macula Risk
Introduction The Data behind Macula Risk Introduction
Macula Risk® tests for several genetic markers (Single Nucleotide Polymorphisms (SNPs) and
Haplotypes) that strongly affect the genetic risk of progression to advanced AMD with vision loss.
Several of these gene variants promote inflammation by altering activation of the complement
cascade, an aspect of innate immunity. Other gene variants affect mitochondrial function and
increase oxidative stress in the retina, consistent with both the role of smoking as a risk factor
and the benefit of antioxidants in delaying disease progression. All of the genetic markers
included in the Macula Risk test have validated in at least 2 independent studies.
The genetic markers in the Macula Risk test are:
Note: Smoking is also included in the Macula Risk assay and has an odds ratio of 3.14
The genetic factors Y402H in the CFH gene and the ARMS2 gene alone account for 63% of the
disease risk, while the inclusion of other genetic markers along with age and smoking status allow
for a highly predictive risk model to be generated.
The Data behind Macula Risk
The genes used in Macula Risk have been studied in over 50,000 patients. This level of validation
allows confidence in the results achieved with Macula Risk.
Has Macula Risk been validated?
The test has been studied extensively, with each marker being validated in at least two
independent, peer-reviewed publications. A research study published by Dr. Seddon in IOVS on
the predictive value of genetics in Age-related Macular Degeneration calculated the predictive
value in her dataset to be 83%.
Test Results
Macula Risk uses a simple cheek swab to take a sample of the patient's DNA.
For patients with early or intermediate signs of AMD, Macula Risk identifies the ones (1 in every 5
patients) that are at highest risk (red bars) of vision loss due to AMD. Identifying these patients
early allows eye-care professional to implement a disease management strategy focused on sight
preservation.
Note: Percentages on top of each MR score indicate the expected population prevalence of that risk category (i.e. 50% of the tested population is expected to be MR1).These percentages represent a lifetime risk, by age 80.
Risk Category Details
The genetic markers plus smoking allow an individual's risk to be determined and risk is
categorized into 1 of 5 groups.
Patients at highest risk for progression include those over 65 years of age, have drusen present
and score at MR3, MR4 or MR5 on their Macula Risk gene test. These patients should have an eye
examination more than once per year.
Fortunately 50% of people are at low risk for AMD progression. Only 1.0% of people are at MR5
or 'Very High' risk.
The test cannot determine when the disease will emerge and progress, it can only ascertain the
likelihood of the advanced form developing and so is measured as lifetime risk.