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New genetic links found to rare eye disease, opening the door to better diagnostics and potential treatments

The gene mutations explain why patients with MacTel are unable to produce enough of an amino acid needed for eye health.
March 25, 2021
Grey scale electron microscopy image of human retinal cells.

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

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.

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.

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.  

Read more at Scripps Research.