A Singapore-led study has revealed new genes that are strongly associated with the most prevalent form of glaucoma in Singapore, and Asia. This discovery provides insights into the disease process of glaucoma, opening up new possibilities for the delivery of precision medicine. It also enhances the ability to screen and start treatment early for those at risk of becoming blind from glaucoma.

 

Jointly led by Dr Khor Chiea Chuen from A*STAR’s Genome Institute of Singapore (GIS) and Prof Aung Tin from Singapore Eye Research Institute (SERI), Singapore National Eye Centre (SNEC) and National University of Singapore (NUS), the study involved more than 10,000 patients from 24 countries.
 
The researchers found five new genes linked to primary angle-closure glaucoma (PACG), a type of glaucoma responsible for a high proportion of blindness worldwide and afflicting up to an estimated 15 million people in Asia. This latest discovery adds on to the three other genes linked to PACG that were discovered in 2012.

 

With this knowledge, clinicians can conduct genetic screening to find out if a patient carries these genes. People who carry all eight genes run a much higher risk of developing glaucoma compared to someone with just one or two of these genes.

 

 

Dr Khor, co-lead author of the study and Principal Investigator of Human Genetics at the GIS, said, “This high risk group could perhaps be treated earlier to prevent glaucoma and blindness from occurring. But more work is needed before this could be a reality.”

 

Although it is preventable, glaucoma is the leading cause of irreversible blindness worldwide. Having seen glaucoma patients at the SNEC and SERI for more than 20 years, Prof Aung noticed that PACG is fairly common in elderly Singaporean Chinese, and that the disease appears to run in families, thus raising the possibility that there could also be a hereditable basis for PACG.

 

GIS Executive Director Prof Ng Huck Hui said, “As Singapore faces the challenge of a rapidly ageing population, the need to research the genetics of age-related diseases, like glaucoma, also increases. Considering how prevalent PACG is in Asian populations, this discovery is significant as researchers continue to work towards precision medicine. It allows for better clinical decision-making which ultimately leads to improved healthcare outcomes for the public.