The pathology in the clinics still amazes me! I saw a 10 year-old boy this week whose father said he couldn't see well. The father gave the history that ever since the boy had been young, he couldn't see well in dim light. During the daytime, he was able to see quite well, but as soon as he was in low-light conditions, the child had to start feeling around for things and couldn't navigate well through rooms, etc. The child had never seen an eye doctor, and the family history was limited.
The father gave such a good history that I had an idea of the diagnosis before I even examined the child. Indeed, he had bone-spicule-like pigmentation in the periphery, consistent with a diagnosis of retinitis pigmentosa (RP). The child didn't have any other problems (such as hearing loss, difficulty walking, etc) to suggest that it was part of a syndromic disease, such as Usher syndrome.
Unfortunately, there isn't much to do for this child right now to actively improve his vision. However, we can explain the disease to the parents and continue to follow him.
Luckily, there is a lot of active research in this area, much of it at my home program, The University of Iowa. Dr. Ed Stone studies inherited retinal diseases and recently received a 25 million dollar gift from Stephen Wynn (owner of Wynn Hotels) to continue his research. Interestingly, Mr. Wynn also has retinitis pigmentosa, thus his great interest in supporting Dr. Stone's research.
You can check out the website for the Stephen A. Wynn Institute for Vision Research here:
http://www.wivr.uiowa.edu/
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