“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 gain three things. First, if the test works, I may discover which gene of mine is mutated. If they ever have a clinical trial for Stargardt’s patients, I would have to know which of my genes are mutated. Right now they know of fifteen different genes related to Stargardt’s, so it could be any of them. Because the test takes months to perform, by getting it done now, I would at least be ahead of the pack. Second, because my variation of Stargardt’s Disease (only affecting one eye… for now!) is apparently very rare, my genetic mutations would be added to the national database for other testers to compare against.

And, third, it gives me something geeky to blog about.

One concern the doctor had was that because my eyes are different colors, I have two different genetic codes. By taking a blood sample for testing, it’s possible that they could only get one kind of code (the good eye) or the other kind (the bad one). Hopefully, both kinds will show up on the test.

So, after a brief session with the geneticist in which I was asked lots of questions (including the one above about the potential that my parents were blood relatives) I was sent over to OU Children’s Hospital to have blood taken. Apparently some gene research can be done with a cheek swab, but this one requires blood. It can also be done “with a biopsy sample from the affected area,” which sounds like fun to no one involved.

The geneticist has to fill out an application by hand and manually request a test for me. Once the sample is mailed off it will take months to get any information back, so if this topic bores you to death, good news!

I have read that some people have to pay as much as $5,000 out of pocket for this test and the doctor said multiple tests have run people $10k. Our insurance only requires a $100 payment.

Now all there is to do is wait for the results and see! (That’s a vision joke.)

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 and inevitably leads to blindness. On yesterday’s visit, my third to the institute, I was administered an ElectroRetinaGram, or ERG test.

Prior to that test, I repeated the tests I’ve performed during my other visits. First up was a standard vision test. I scored 20/25 in my good eye, and 20/2000 in my bad eye although I was able to increase that number to a whopping 20/125 by using my peripheral vision. Next up was a new test, the Ishihara Color Blindness Test. You’ve probably seen this test on the internet before; it consists of picking out numbers written with circles of one color presented on top of a background of circles of another color. Apparently, color blindness goes hand-in-hand with Stargardt’s. I had no trouble with the color test, a good sign for now. After these tests were performed, my eyes were dilated and then after receiving a few numbing drops, some rubber thing poked my eyeballs a few times.

Next, the ERG.

The ERG is performed in a small office with barely enough room for two people. Spouses get to wait in the waiting room for the duration of the test; fortunately for Susan, Dean McGee has a steady stream of Gilligan’s Island, Three’s Company and Green Acres reruns playing in rotation out there. No such luck back in the ERG testing room. Instead of old reruns, I was treated to multiple rounds of eye numbing drops. Every couple of minutes while making small talk with the gentleman who administers the test I received another round of eye drops.

After fifteen or twenty minutes and with my eyeballs now both numb and dilated, custom contact lenses were inserted into my eyes. I’ve never worn contacts before so the sensation of having someone else insert something into my eye felt odd. Fortunately by this time my eyes were so numb I couldn’t feel anything. The lenses further distorted my vision, thanks in part to the wires connected directly to them. After the lenses were inserted, another dozen or so monitor wires were connected to my face and ears.

I found a picture on the internet of a women with one of the lenses installed, preparing for the test.

By the way, if you’re wondering how a person blinks with bulky contacts (with wires protruding from them) inserted into their eyes, the answer is, you can’t. For the next 10-15 minutes I was unable to blink. Again due to the numbness of my eyes this wasn’t as physically uncomfortable as it was psychologically disturbing. That scene toward the end of A Clockwork Orange came to mind.

With negotiations performed, it was time to dance. The first of two tests required me to stare into a small screen with my eyes focused on a small red dot. Although I was assured the dot was small, to me it looked like the sun. Then, while staring at the light, different flashes of light appeared. I was told that these flashes of very specific wavelengths of light were being used to stimulate the rods and cones in my eye. I thought about the poor inner workings of my eyes who were no doubt trying to make sense of this odd exposure to flashing lights in the darkness. The final exposure, proceeded by a nonchalant “You’re not epileptic, are you?” was a 10-15 second barrage of quickly flashing lights. Even without having one’s eyes dilated and forced open staring directly into a quickly flashing strobe light would be uncomfortable; having a hundred flashes of light going off in a matter of seconds in a dark room left me seeing stars for a minute or two.

The next test was I believe what was called an LKC Test, although I also believe LKC to be the company that devised the test. For this test a large, high-resolution computer monitor was placed directly in front of me. The picture on the monitor consisted of a grid of hexagons alternately colored black and white, with a large red “X” laid over the top of the picture. Each time the doctor clicked a button, the hexagons alternated rapidly, randomly flashing between black and white for roughly ten seconds. This was done approximately twenty times. Again this test was more headache-inducing than physically painful.

This is a picture from LKC’s website showing the pattern, although this specific picture appears to show some sort of magnification lens in front of the monitor. My test had no such lens.

After this test was performed, the lenses were finally removed. The doctor said my eyes might feel “goopy” for a while. I asked him if this was an official medical term and he confirmed it was. The final round of eye drops consisted of water to flush the eyes. Throughout the entirety of my visit I think I received somewhere between ten and twelve eye drops per eye.

Next I was sent back to the waiting room where, after a short wait, I was called back to see the doctor who reviewed my results. Unfortunately, the test confirmed the previous diagnosis. After again mentioning “I can’t believe you can still see so well out of your right eye,” the doctor reminded me that this will not be the case forever, and down the road I will definitely be making some life adjustments as my Stargardts worsens with time. Each time I tell the doctor I cannot make out the vision test or his face with my left eye, he reminds me my good eye will be the same in another decade or so.

While the test was over by noon, I spent the rest of the day with blurry vision and a minor headache. Even with (2x) reading glasses, it was nearly impossible to read anything on my phone or a restaurant menu. Several hours later, after resting my eyes and taking a short nap, my vision had mostly returned to normal.

My normal, anyhow.

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 disease has no impact on general health and life expectancy is normal. Some patients are able to drive.”

From my Retina Specialist:

“If you enjoy reading books or driving, you should probably do a lot of it before you turn 50.”

Random takeaways from yesterday’s appointment:

– Stargardt disease requires inheriting one specific gene from each parent. Because of this it often/usually skips generations.

– The Dean McGee Eye Institute sees approximately 4 cases of Stargardt’s disease each year.

– Typically, Stargardt disease affects both eyes at the same rate. In my case, it hasn’t. The doctor called my case unique and referred to it as a rare form of a rare disease.

– Dean McGee has asked me to come back for more research so they can gather more information about this rare form of Stargardt’s.

– Stargardt disease is unrelated to Horner’s Syndrome (the reason I have different colored eyes). The fact that I have both is a coincidence, although it may explain why the Stargardt has affected my eyes at different rates.

– Stargardt only affects your central/focused vision, not your peripheral vision. That’s why it affects your ability to read or recognize people’s faces, but not your ability to maneuver a room, for example.

– The previous diagnosis of macular degeneration/atrophy is really just a product of Stargardt disease. None of the treatments (vitamins, shots, etc) will have any affect on my vision.

– While some research with stem cells is being done, there is no current treatment, prevention, or slowing down the progression of the disease.

– Legal blindness is defined as 20/200. The vision in my left eye is 20/1500. My right eye is currently 20/25.

– The doctor expects me to be legally blind within the next 10 years, give or take.

“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 is two different colored eyes, followed by (and I’m quoting Wikipedia here) “miosis (a constricted pupil), ptosis (a weak, droopy eyelid), apparent enophthalmus (inset eyeball), plus/minus anhidrosis (decreased sweating).” I don’t think my eyeball is inset, but I do have all the other symptoms: in regards to my green eye, the pupil is constricted and slow reacting, the eyelid slightly droops, and I do not sweat on that side of my head. While some people develop Horner’s Syndrome over time, most people (like me) were simply born with it.

The bigger concern was the results of my eye exam.

Let’s start off with my vision test. In my green eye (the “bad” one), the results of my eye exam were 20/1500. That means that, at least in that eye, objects that are 20 feet away look like they are 1,500 feet away for me. This became pretty clear when, with my good eye covered, I could not read a single letter on an electronic eye chart 8′ away. The eye charts they use are presented on a 24″ monitor, and they will continue to enlarge the letters until one single letter fills the entire 24″ monitor. With my left eye, I can’t read a letter that fills a 24″ monitor from 8′ away.

I had heard of macular degeneration before. Just two weeks ago, Roseanne Barr announced she was going blind from macular degeneration. In my green eye — again, the bad one — I have what’s called macular atrophy.

Here’s a quick eyeball lesson. I didn’t know any of this before yesterday so my apologies if I get any terminology wrong. In the back of your eyeball there’s an area called the macula. Across the macula are tiny bands that allow your retina to focus on things. This is all about your “straight ahead” vision, not peripheral vision. The most common type of Macular Degeneration (dry) is the wearing down of those bands over time. Vision loss is gradual with dry macular degeneration. 90% of the people who have macular degeneration have this type.

Atrophy, unfortunately, is worse. If “degeneration” is the journey, “atrophy” is the final destination. My bands done degenerated. There is no fixing this eye. Even what we call an eye transplant (which is really just a cornea transplant) would not fix this. The good news is, it can’t get any worse in that eye — which is akin to saying, “at least that dog turd can’t get any stinkier.”

Now let’s talk about what I used to call “my good eye,” which I must now call “the better eye.”

In my better eye I am showing signs of Macular Degeneration, which apparently runs in my dad’s side of the family. The doctor said the macula bands in my good eye have already started to degenerate. Usually he only sees this amount of degeneration in his older patients, but… lucky me. There’s no way to repair those degenerated bands. The only “treatment” is to slow down the degeneration.

My doctor referred me to a list of things one can do to slow down macular degeneration. I have personally grouped them into three logical categories.

– Don’t smoke, lose weight, lower your blood pressure: eyeballs require large amounts of oxygen and blood to function. Anything that restricts the flow of oxygen or blood to the eye contributes to macular degeneration.

– Exercise regularly: Again, increasing the flow of oxygen in the bloodstream helps.

– Diet and supplements: Eat a nutritious diet that includes green leafy vegetables, yellow and orange fruit, fish, and whole grains. Take supplements. Wear sunglasses and hats outdoors.

Based on that:

– I don’t smoke, but I do need to lose weight and lower my blood pressure. That just turned into a priority. Exercising regularly is a part of that.

– I see diet changes in my future. And just in case you don’t think this is serious, Susan brought home my new breakfast regimen last night:

Short of stem cell therapy, exercise, vitamins, and wearing sunglasses are about all I can currently do. (Smoking pot with Roseanne Barr is not an option.) While vitamins and all those other things won’t restore any vision I’ve already lost, it will (can) help me retain what I currently have — which, again, has suddenly become a pretty big priority.

I am sharing all of this not because I am looking for sympathy or prayers or well wishes from anyone but because I am a journalist at heart and have a need to document things around me, good and bad. While my macular degeneration should hopefully be gradual enough that I’m not continually documenting any increases in vision loss, if there’s a major change I’ll definitely provide an update. Other than my own new personal health goals, it’s back to business as usual.