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Researchers identify a genetic defect that increases the risk of debilitating eye disease


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 a rare DNA mutation in the PHGDH gene, which will help clinicians to better diagnose and treat it. ....

United States , United Kingdom , Melanie Bahlo , Brendan Ansell , Roberto Bonelli , Emily Henderson , Lowy Medical Research Institute , Communications Biology , Eye Hospital , Professor Bahlo , Eye Disease , Amino Acid , Blood Vessels , Medical Research , Vision Loss , ஒன்றுபட்டது மாநிலங்களில் , ஒன்றுபட்டது கிஂக்டம் , பிரெண்டன் முன்செல்ல , ரொபெர்டோ போனெல்லி , எமிலி ஹென்டர்சன் , தாழ்வான மருத்துவ ஆராய்ச்சி நிறுவனம் , தகவல்தொடர்புகள் உயிரியல் , கண் மருத்துவமனை , கண் நோய் , அமினோ அமிலம் , இரத்தம் நாளங்கள் ,

Genetic discovery gives insight into causes of eye disease