Awkward Questions from the Geneticist

“Let me ask you an odd question. Is there any chance your parents are blood relatives?” Last week, I visited the Dean McGee Eye Institute again, this time to meet with a geneticist. I don’t claim to know anything about genetic testing or genetics in general (other than the fact that teachers would always get upset with me when we filled out those charts in school showing dominant and recessive genes and mine had one brown eye and one green eye…), but here’s what I understand. There’s currently no treatment for Stargardt’s Disease, but by doing genetic testing now, I… (read more)

A New Day

After my annual eye checkup at the Dean McGee Eye Institute last week (nothing’s changed), my doctor recommended I see a geneticist for further testing. Because Stargardt’s Disease is just one of many similar vision conditions, they can’t definitively diagnose it without performing genetic testing. Part of me thinks that because there’s no cure or treatment there’s not much point in having the test performed, but if or when a treatment is ever developed, a person would need to have already had genetic testing performed. In terms of how this may eventually help my prognosis, I put it up there… (read more)

More Vision Tests: the ERG and LKC

While I’m sure some think I took the day off from work yesterday because of my wedding anniversary, the primary reason I was off was to have more vision tests performed. Yesterday was my third trip to the Dean McGee Eye Institute. On my first visit I was diagnosed with profoundly advanced macular degeneration in my left eye, and on my second visit, with additional tests (including one where yellow dye was injected for the purposes of studying the blood vessels in my eye more closely) I was diagnosed with Stargardt’s Disease, a genetic condition that causes early macular degeneration… (read more)

Stargardt Disease

From Wikipedia: “Stargardt disease, or fundus flavimaculatus, is an inherited form of juvenile macular degeneration that causes progressive vision loss usually to the point of legal blindness. The onset of symptoms usually appears between the ages of six and thirty years old (average of about 16–18 years). Several genes are associated with the disorder. Symptoms typically develop by twenty years of age, and include wavy vision, blind spots, blurriness, impaired color vision, and difficulty adapting to dim lighting. The long-term prognosis for patients with Stargardt disease is widely variable although the majority of people will progress to legal blindness. Stargardt… (read more)

Macular De What?

“You are definitely the most interesting person I’ve seen all day.” A fun phrase to hear in some situations, an eye exam at the Dean McGee Eye Institute not being one of them. After three hours of tests, scans, and evaluations, the optometrist weakly smiled at me and said, “I wish I had better news for you.” I wish he did, too. First, he told me I had Horner’s Syndrome. I already knew that, and it’s not a big deal. Horner’s Syndrome is caused by damage to a group of nerves and has a few major symptoms. The dead giveaway… (read more)

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