University of Iowa researchers have discovered a new, rare, inherited eye disease. The disease causes an abnormality of the blood vessels that are prone to bleeding in the small and highly sensitive part of the retina responsible for detailed central vision.
Vinit Mahajan, MD, PhD, the study's lead author and an ophthalmologist at University of Iowa Hospitals and Clinics, talks about the discovery:
What initiated this study of the eye?
A young woman came to the clinic with loss of vision. When we looked in the back at her retina, we saw an unusual pattern of scarring, unusual blood vessel pattern, and a bleed. When we talked to her more about it, we learned her extended family had a variety of vision problems.
What are the symptoms of this particular eye disease?
In her case, it was blurred central vision or areas of black spots in her central vision. In many of the family members, we later found they also had misalignment of the eyes when they were children. They also had difficulty correcting their vision with glasses to 20/20.
How are those symptoms different from macular degeneration?
I think many of the symptoms are similar. Macular degeneration is typically found in folks over 55, and can show scarring and leaky blood vessels in the macula, as well. What was unusual about this was the young age of our patient and the actual appearance and pattern that we saw.
What steps were taken to identify the disease?
Whenever somebody comes to The University of Iowa and seems to have a family history of a certain condition, we do a "road trip," and, in this case, we arranged to see 25 members of the family at an office local to them.
We took our photographer; genetics nurse; another ophthalmologist, Steve Russell, MD, and Ed Stone, MD, PhD, who is the senior author on the paper. We went out and examined all the patients at the same time and then immediately found patterns that run within the family from the young to the old.
Who was included on the team that helped identify this disease?
I mentioned Stephen Russell, who is a vitreoretinal surgeon at The University of Iowa, and Ed Stone, who is also a retina specialist and heads the Carver Center for Macular Degeneration, where we do lots of genetic eye disease studies.
Is the treatment of this disease similar to other eye diseases?
Many of the patients didn't need treatment, but in the case of the patients having bleeding in their eyes, we used a drug called Avastin, which is also used in age-related macular degeneration. We inject this medication into the eye to stop the leaky blood vessels from bleeding, and this seemed to help.
What are the next steps with regard to the research of this particular eye disease?
The main next step is to try and identify the gene. The family was generous and donated blood samples so that we could collect DNA. Our hope is with the publication, though, that other ophthalmologists' patients will contact us. If they have a similar condition and they're willing to donate a DNA sample, the chances of us finding the gene are much higher. |
