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New glaucoma test to avoid blindness
Glaucoma is the main cause of blindness, although it can be treated well if diagnosed in good time. In a recent study, researchers have now identified 107 genes that significantly increase the risk of glaucoma and developed a genetic test to identify people who are at risk of becoming blind due to glaucoma.
The research team of the QIMR Berghofer Medical Research Institute and Flinders University in Australia has used the genetic information of tens of thousands of people worldwide to develop a test that can be used to determine the risk of glaucoma. In this way, people with a particularly high risk could be identified and blindness could be prevented by early therapy.
76 million people affected worldwide
Glaucoma is "the main cause of irreversible blindness worldwide and is expected to affect 76 million people by 2020," reports the research team. It is a group of diseases that are characterized by progressive damage and degeneration of the optic nerve and cause gradual vision loss. Although glaucoma has so far not been curable, treatment can in most cases reliably slow or stop the progression of the disease.
Early detection is paramount
However, a prerequisite for successful therapy is that the disease is recognized in good time. However, according to the researchers, up to 50 percent of those affected do not know that they suffer from the disease. "Early detection is of the utmost importance because existing treatments cannot restore lost vision and late detection of glaucoma is an important risk factor for blindness," said study director Professor Stuart MacGregor from the QIMR Berghofer Medical Research Institute.
Predict risk using blood or saliva samples
"Glaucoma is a genetic disease, and the best way to prevent vision loss from glaucoma is through early detection and treatment," said Professor Stuart MacGregor of the QIMR Berghofer Medical Research Institute. The identification of the risk genes has enabled the researchers to develop a polygenic risk score (PRS) for glaucoma that can more accurately predict the risk of disease using a single blood or saliva sample.
Significant advantages over previous tests
"Our study found that by analyzing DNA from saliva or blood, we can determine how likely it is that a person will develop the disease and who should be offered early treatment and / or monitoring," said Prof. MacGregor. In contrast to the existing eye health examinations, which are based on eye pressure or a detectable damage to the optic nerve, the genetic test can be carried out before the onset of the damage and thus serve as a regular screening.
Check-ups from 50 years of age
While glaucoma can occur at any age, most people are over 50 years old. Therefore, the researchers initially formulated the goal of offering blood tests to people aged 50 and over, which can be used to determine whether they are at risk. In order to improve the accuracy of the prediction, the researchers are planning the next step, an investigation with 20,000 people in which additional genes will be identified that play a role in the disease.
Personalized approach to previous treatment
"We want to know who gets glaucoma, and we want to be able to determine the age at which they will get it," said Professor MacGregor's ambitious goal. A precise genetic test would also make it possible to develop a personalized approach for the early treatment of people at high risk, so that people with lower risk could be monitored and treated less intensively, the study leader concludes. (fp)
Author and source information
This text corresponds to the specifications of the medical literature, medical guidelines and current studies and has been checked by medical doctors.
Dipl. Geogr. Fabian Peters
- Jamie E. Craig, Xikun Han, Stuart MacGregor: Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression; in: nature genetics (published: 20.01.2020), nature.com
- Flinders University: New glaucoma test to help prevent blindness (published January 21, 2020), eurekalert.org