deCODE Glaucoma™

A novel DNA-based test that assesses risk for exfoliation glaucoma. Individuals testing positive are at 2.4-times the population average risk of developing exfoliation glaucoma.

Screening and prevention

How deCODE Glaucoma™ can help.

deCODE Glaucoma™ identifies those who are at increased genetic risk of developing open angle glaucoma

The deCODE Glaucoma™ risk results are independent of and complementary to other known risk factors such as family history of glaucoma or elevated eye pressure.

Those who test positive may derive greatest benefit from regular eye exams, with the aim of detecting more disease earlier and treating it to slow progression and preserve vision.

About 28% of people of European descent are homozygous for the at-risk versions of the SNPs, and as a result are at about 2.4-times the population average risk of developing the disease.

Homozygosity for a G (the risk alleles) of both SNPs analyzed (RS1048661 and RS3825942) is what constitutes a positive test. All other genotype combinations constitute a negative result

About 10-30% of all primary open angle glaucoma patients have the at-risk version of the LOXL1 gene variants. Jointly, the two non-synonymous changes account for more than 99% of all exfoliation glaucoma cases.

According to deCODE’s research the effect of the identified genetic risk variants seem to be in addition to and independent of other known risk factors such as intraocular pressure and age. This means that even though at this point in time there is no known remedy or actions that can be specifically taken to counteract the genetic risk associated with the LOXL1 variants, the overall risk for vision loss as a consequence of undetected exfoliation glaucoma may be decreased through frequent eye exams and physician recommended interventions.

This content was last reviewed on January 25, 2011.