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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