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 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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