In September of 2019, research was published in The New England Journal of Medicine confirming that two of the genetic variants that are known to cause HSAN1 also cause the eye disease, Macular Telangiectasia type 2 (MacTel). This research was performed under the direction of Dr. Paul Bernstein (Moran Eye Center in Salt Lake City, UT) and involved a highly sensitive imaging technology, called FLIO, which is only available for use in the United States at this specific eye institute. Martin Friedlander, MD, PhD, of the Lowey Eye Institute was the senior author on the study which was supported by the Lowey Institute.
A handful of Deater family members volunteered to fly to Salt Lake City and participate in this study, along with other participants with and without HSAN1. The data obtained was helpful in determining the associated linkage between the two diseases. Since HSAN1 is known to cause elevated levels of neurotoxic deoxysphingolipids that accumulate in the body, it is thought that these same neurotoxic compounds could also be responsible for the macular damage seen in patients with MacTel. This study is the first to describe the linkage between systemically low serine levels and increased deoxysphingolipid levels as being potential risk factors for developing MacTel. Importantly, the research concluded “that elevated deoxysphingolipid levels can cause macular disease in the broader population of patients with macular telangiectasia type 2, as well as in patients with HSAN1.”
The full paper is linked: “Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy.”