Australian scientists discover genes responsible for degenerative eye disease

Australian scientists have discovered evidence of genes that cause a degenerative eye disease that leads to blindness for the first time.

Research published by the Walter and Eliza Hall Institute of Medical Research (WEHI) and The University of Melbourne established five key regions, or loci, in the genome that influences a person's likelihood of developing Macular Telangiectasia type 2 (MacTel).

Lead researchers Melanie Bahlo and Thomas Scerri from WEHI are hopeful that the study, published in respected journal Nature Genetics on Tuesday, will enable scientists to better understand the disease and potentially stop its progression.

MacTel is a rare and complex degenerative disease that usually begins to affect people from 40 years old onwards.

The disease causes abnormal growth of blood vessels in the macula, which is in the middle of the retina.

Patients slowly experience a loss of central vision crucial for tasks such as driving and reading, leading to blindness.

Bahlo said the study involved investigating detailed analysis of the genes of MacTel patients from around the world using genome wide association studies (GWAS).

"We analysed more than six million genetic markers and identified five regions, called loci, across the genome that had similar patterns in people with the disease, but not healthy individuals," Bahlo said in a media release on Tuesday.

"These five 'genetic risk loci' are our treasure map, telling us where to 'keep digging' in order to discover the specific genes implicated in MacTel."

The team from Melbourne worked with researchers from New York and London to analyse the genetic data from 476 people with MacTel and 1733 people without the disease.

"We were thrilled when our results were corroborated by two further independent validation studies," Bahlo said. Endit