Eye Study Perspectives

I recently visited the Scheie Eye Institute in Philadelphia, where I volunteered for “The MacTel
Study: A Natural History Observation and Registry Study of Macular Telangiectasia Type 2” under the
Principal Investigator, Dr. Alexander Brucker. The evaluation took about 4 hours to complete, and
involved a full eye examination – refraction, visual acuity, slit-lamp exam (to check the surface of the eye, eye mobility, pupils, angles, eye pressures, etc.), dilated eye exam (to examine the back of the
eye/retina), blood draw for genetic testing, medical history and family history.

Then the second half involved a whole roomful of different equipment for imaging. Those tests included:

  • Optical Coherence Tomography (OCT) scans (takes cross-section pictures of the back of the eye/retina to
    measure the thickness of each layer)
  • Fundus Photographs (color images of the retina)
  • Fluorescein Angiography (“the dye test” – fluorescein dye is injected into the arm and photographs are taken
    of the inside of the eye as the dye moves through the blood vessels). This dye turns your urine the color of a
    bright yellow highlighter for a day, but hey, now I can cross that off my bucket list, right? 😉
  • Fundus Autofluorescence (done on the OCT machine, just

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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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