A Possible Link Between HSAN1 and Eye Disease

Tami Murphy, The Deater Foundation

The Deater Foundation was recently contacted by Dr. Martin Friedlander, President of the Lowy Medical Research Institute (LMRI). He reached out because of a possible connection between HSAN1 and the orphan retinal disease, Macular Telangiectasia type 2 (MacTel).

The Lowy Medical Research Institute is committed to understanding the causes of MacTel, and translating these discoveries into treatments. MacTel causes gradual deterioration of central vision, which is used for tasks like reading and driving. Affected people typically begin to notice visual changes in their 40s and 50s. MacTel is often misdiagnosed as macular degeneration.

The Lowy Medical Research Institute supports both clinical and laboratory research. Through recent genetic and metabolomic studies, they found that a defect in serine/glycine metabolism may play a role in MacTel. Through contact with Dr. Eichler and others studying HSAN1, they found that a number of HSAN1 patients self-report vision problems. Due to the metabolic link of serine, the question was posed…could there be a connection between HSAN1 and MacTel?

To determine if this is the case, patients with HSAN1 are being asked to participate in the MacTel Project. The purpose of the MacTel Project is to identify and characterize people with 

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A Personal Perspective: Alexis Ellsworth

My father and my grandmother are the two people closest to me that have the disease. I grew up knowing that there was something different, but it was normal for my family. I first started to experience symptoms when I was around the age of 10. It started with small spot of numbness on my feet. I wasn’t sure what to think about it. I had brought it up with my parents and they helped me keep an eye on it. After a few months of the numbness progressing, my dad took me to an IHOP and he shared his experience. He explained that my numbness might be a symptom of the disease in me. It wasn’t until I was 14 or 15 that I was actually tested for the gene during the trials in Boston. That was when I knew for sure that I had HSAN1.

My experience with HSAN1 has had its ups and downs. I have had issues in the past with wounds slow to heal. Currently I am dealing with that same thing. A fun trip to Disney has resulted in blisters that seem to be healing at a snail’s pace. I can’t always do the

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