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<meta name="description" content="NEI-funded research at Scripps Research Institute has turned up more than a dozen gene variants linked to MacTel, a rare eye disease. The variants are likely causing the condition to develop and worsen for a significant share of patients." />
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<meta name="abstract" content="NEI-funded research at Scripps Research Institute has turned up more than a dozen gene variants linked to MacTel, a rare eye disease. The variants are likely causing the condition to develop and worsen for a significant share of patients." />
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<span>New genetic links found to rare eye disease, opening the door to better diagnostics and potential treatments</span>
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The gene mutations explain why patients with MacTel are unable to produce enough of an amino acid needed for eye health.
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March 25, 2021
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<img src="https://www.nei.nih.gov/sites/default/files/styles/small/public/2021-03/259913_web.jpg?itok=vG1fvgL_" alt="Grey scale electron microscopy image of human retinal cells." width="600" height="400">
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<p>An electron microscopy image of human retinal cells, which were analyzed in a new study on a rare eye disease known as MacTel. The cells were created using induced pluripotent stem cell technology. Credit: Kevin Eade, Scott Henderson and Kimberly Vanderpool</p>
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<p>NEI-funded research at Scripps Research Institute and Lowy Medical Research Institute, both in La Jolla, California, has turned up more than a dozen gene variants linked to MacTel, a rare eye disease. The variants are likely causing the condition to develop and worsen for a significant share of patients.</p><p>The discovery, made in collaboration with Columbia University in New York and UC San Diego, provides a new avenue to pursue for diagnosis and treatment. It also sheds light on fundamental aspects of metabolism in the retina, a tissue with one of the highest energy demands in the human body. Findings appear today in the journal Nature Metabolism.</p><p>MacTel, short for “macular telangiectasia type 2,” is a progressive and debilitating eye disease that occurs in roughly one out of 5,000 people, or about 2 million people worldwide. A disease of the retina, the light-sensing tissue at the back of the eye, MacTel causes a gradual deterioration of central vision, interfering with critical tasks such as reading and driving.</p><p>Read more at<a href="https://www.scripps.edu/news-and-events/press-room/2021/20210322-friedlander-mactel.html"> Scripps Research.</a></p>
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