First genetic cause for a rare eye disease discovered
Scientists at the Lowy Medical Research Institute (LMRI) have discovered one cause of a progressive, debilitating eye disease called macular telangiectasia type 2 (MacTel). The work, using genetic, clinical and biochemical studies has implications for other retinal eye diseases, as well as peripheral neuropathies.

"This is a breakthrough not just for MacTel research, but for eye, neurological, and metabolic research more broadly," said Martin Friedlander, president of LMRI, professor at Scripps Research, and senior author on the paper with Christian Metallo, an associate professor at University of California, San Diego and Paul Bernstein, a professor at University of Utah School of Medicine. "This discovery was only made possible through a global network of talented collaborating physicians, scientists and patients; generously supported by enlightened philanthropists, the Lowys."

The research was published by the New England Journal of Medicine on September 11, 2019.

Worldwide, MacTel is estimated to affect about 2 million people, with an onset of symptoms typically occurring in the fourth and fifth decades of life. A disease of the retina, the light-sensing tissue at the back of the eye, MacTel causes those affected to experience a gradual deterioration of central vision, interfering with such critical tasks as reading and driving. There is currently no treatment for the disease.