Dr. Elizabeth Thiele: The tumor in the eye is called a retinal harmartoma. And typically if we see it, it does not affect visual function. It's used primarily as a diagnostic criteria. If I had someone in my office, and I was saying, gee, could this person have TSC? If I was able to look in their eye, or have an ophthalmologist look in their eye, and identify one of these hamartomas, that would serve as a major diagnostic criteria, and help me decide, does this individual have TSC or not? After the diagnostic phase, and determining if a person does or does not, the eye is not one of the organ systems we believe we have to closely follow because even if people do have retinal hamartomas, they typically don't grow significantly, and they rarely if ever affect visual function.
© 2006 The General Hospital Corporation.