U of T Researchers Identify an Eye Signature for ALS

Published in Temerty Faculty of Medicine, University of Toronto November 23, 2020, written by Emily Kulin

For a team of U of T scientists, our eyes may be more than windows to our souls — they can help diagnose and monitor Amyotrophic lateral sclerosis or ALS, a devastating and incurable neurological disease.
In a recently-published article in the journal Investigative Ophthalmology & Visual Science, U of T researchers share their discovery that individuals with ALS show tell-tale changes in the layers of their retinas — the membrane that lines the inner surface of the back of the eyeball.

“ALS is challenging to diagnose, and can often present differently from patient to patient,” says Dr. Yeni Yucel, Professor in the University of Toronto’s Department of Ophthalmology and Vision Sciences and a pathologist-scientist at St. Michael’s Hospital and Keenan Research Center for Biomedical Science. “Now, with this new knowledge, we may be able to rapidly speed up diagnosis using equipment that is already found in most ophthalmology clinics.”

The team examined the retinas from 10 deceased ALS patients. Early on, it became clear that there was something different going on in the innermost retinal layers of these patients. Retinal spheroids — unusual round bodies resembling lesions found in the spinal cord of people with ALS — were spotted. Painstaking care was taken to count and examine these retinal spheroids. Their significance in ALS was confirmed when compared to normal retinal tissue, as published today.

“This finding is especially important because it points to a new biomarker for ALS in the eye that we hope will help to diagnose and monitor disease progression non-invasively with retinal imaging tools.” says Yucel.

“My research has been focused on blinding eye diseases,” says Yucel. “After losing dear friends to this devastating disease I wondered if maybe the eye could help us understand the disease better.”

He also is quick to point out the unique impact of U of T’s working environment in contributing to his work.

“U of T, with its affiliated hospitals, is a great ecosystem for research like this,” says Yucel. “There’s a real atmosphere of collaboration. Bright students, Kieran Sharma and Maryam Amin Mohammed Amin, worked on this together with Dr. Neeru Gupta, an ophthalmologist at St. Michael’s Hospital and Professor in the Department of Ophthalmology and Vision Sciences, as well as with Dr. Lorne Zinman, a neurologist at Sunnybrook Hospital and Associate Professor with the Department Medicine. We were also fortunate to have support from the Henry S. Farrugia Ophthalmic Research Fund and the Dan Sullivan Research Fund for our work.”

Looking ahead, Yucel is excited to begin exploring the clinical applications of the team’s research.

“Now that we have the eye as our target, we are looking to bring this discovery to ALS patients. Using the patients’ eyes as a window to this disease, ultimately we want to use it to deliver better care for people with ALS,” says Yucel.

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