Stargardt's Disease....What the heck is it,
and how did I find out I had it?
It was with a great deal of fear I sat in a doctor's office in the summer of 2000 and listened to what he had to say. I had been referred to an ophthalmologist by the local Optometrist after he was unable to correct my left eye back to 20/20. The Optometrist had spent a great deal of time looking into the back of my eyes, and finally the awkward silence led me to respond in my typical way...with a wisecrack.
"Just being thorough, right Doc?" I asked. He responded that there was something on my retina. I said, "Oh, you mean those white spots?" He sat back and looked at me and said "You know those are there?" I knew they were there, heck, they had been spotted almost 10 years earlier. The ophthalmologist in the Navy didn't know what they were either. Since they weren't affecting my vision, I didn't worry about them. He told me that he could see the white spots on the retina in my eye, and he didn't know what they were either. But, since we couldn't get to 20/20, I went to the specialist.
So, up I went to the Ophthalmologist. He did a refraction test, and then a dilation. He looked in the back of my eyes and then sat back in the chair. He looked at me, and I asked him what it was. He said he wasn't sure yet, because another test was needed to confirm it, but it appeared that I had Stargardt's disease. I'm sure I looked puzzled as I had never heard of the disease before. He told me that a Flourisine Angiogram would be required to confirm the diagnosis, and an appointment was scheduled for the test. In the mean time, he gave me a basic explanation of the disease (we'll get to that in a little bit) and wrote the name of this strange disease down so I could look it up and do more reading.
The Flourisine Angiogram wasn't painful, but it wasn't pleasant either. To do the test, they dilate your eyes wide open. Normal light is very uncomfortable when they do this. Then they take you into a room, and use a special device to look in the back of your eyes, and proceed to take flash pictures. Remember I said normal light was uncomfortable? Well, imagine staring at the sun without blinking on a summer day. It's like that. You are left completely dazed and barely able to see at all (what little you can see when your eyes are that dilated). Then they bring in a nurse, and inject you with a special fluorescent dye and then take pictures with that flash camera again as the dye runs through the capillaries in the back of the eye. The camera is on a motor drive, and they are clicking off about one shot per second. When they get through, color perception is completely shot for 45 minutes due to the bleaching action from the bright light. You can see one of the photos that shows what my retinas looked like here (don't worry, it isn't gross).
The films were then sent to a retinal specialist who confirmed the diagnosis. So, now we knew it was definite; I have Stargardt's disease. But what is it?
We've all seen the dark spots on the hands and arms of older people. Where I come from, folks called them liver spots. This is caused by a buildup of something called lipofuscin. Well, in people with Stargardt's Disease (also known as fundus flavimaculatus and Stargardt's macular dystrophy) this same stuff accumulates in the back of the eye on the retina. It is a genetic disease (so you can't catch it from someone) caused by a mutation of the ABCR gene. Scary stuff. The really bad part is that there is currently no cure, and there is no treatment. There is hope that within five to ten years, a cure/treatment will be found. It is likely that this will be the result of some type gene therapy (to stop the buildup of the lipofuscin and thus prevent future damage) combined with some type of cell replacement (using donor cells from the patient's own body that are coaxed into changing their function or some type of stem cell grown with the patients own DNA) to repair the damage to the retina. There is also some possibility that technology may provide a solution as well in the form of a ceramic film to replace the damaged section of the retina. These technologies are all up and coming, but based on the rate of progress seen to date, I think we are fairly close.
If you want a more detailed discussion of the actual mechanics of the disease, but still at a layman's level, try this article (click here).
So, here I am, not even 40, and I've found out I have this incurable disease. What's in store now? Unfortunately, no one can tell me because there is no "typical" progression. There are some pictures you can see here that show some illustrations of what some various forms of macular degeneration (including Stargart's disease) do to the vision of a person. But right now, none of these shows the world the way I see it.
I see the world....like this! At least I do as of today (1/12/2002). The page will take a little while to load on a slow connection, but it was necessary to do it this way to be able to demonstrate the way I see the world.
One of the things I notice in addition to the loss of resolution is the loss of low light functionality. It's much harder than it used to be to get around in dark areas.
I encourage people to ask questions about this disease and learn about it. I'm not embarrassed to talk about this in the least, and if you've come here because you too have found you have this as a part of your life, I'll be happy to chat with you about what the future holds, the adaptations you can make, etc. E mail me at firstname.lastname@example.org.
There are some great sites and mailing lists I can also suggest. www.mdsupport.org is a wonderful site that has a large mailing list that provides information and support for people with all areas of Macular Degeneration. Another good resource is www.maculardegeneration.org. If you subscribe to the mailing list at www.mdsupport.org, you'll probably see me in there chatting about whatever every few days!