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Researchers identify a genetic defect that increases the risk of debilitating eye disease A genetic defect could hold the key to preventing or delaying the onset of a debilitating eye disease that can lead to vision loss and blindness. MacTel (macular telangiectasia type 2) affects one in 1,000 Australians. Symptoms include slow loss of vision, distorted vision and trouble reading. Because early signs of the disorder are subtle, it is difficult to diagnose. Researchers have identified an additional seven regions in the human genome that increase the risk of developing the condition, including...

WEHI researchers have identified an additional seven regions in the human genome that increase the risk of developing MacTel (macular telangiectasia type 2), including a rare DNA mutation in the PHGDH gene, which will help clinicians to better diagnose and treat it. Led by WEHI Professor Melanie Bahlo in conjunction with Dr Brendan Ansell, Dr Victoria Jackson and Dr Roberto Bonelli and published in Communications Biology, the research provides a new genetic risk calculator for predicting retinal disorders.