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For many years, people with retinal degenerative diseases such as retinitis pigmentosa (RP), Usher syndrome, and Stargardt disease have been frequently told by their eye care professionals that “there’s nothing we can do.”
Researchers funded by the Foundation Fighting Blindness are moving promising treatments and cures into human studies, and in the not-too-distant future, there are likely to be therapies that will enable eye care professionals to better treat many retinal degenerative diseases.
But even though a cure might not be available today, there is potentially a lot that an eye doctor can do to help patients optimize their vision and eye health. That’s why it is important for people affected by retinal degenerative diseases to stay in touch with their eye care professional — preferably a retinal specialist.
Ian MacDonald, M.D., Branch Chief of Ophthalmic Genetics at the National Eye Institute, has been seeing patients with retinal conditions for more than 20 years. He has run laboratories, which have focused on diagnosing and caring for people with choroideremia and other retinal conditions. MacDonald encourages his patients to stay in touch with him, so he can monitor their ocular health. He says, “I like to make sure that patients don’t have any complications and that their vision corrections are optimal. I can also keep them abreast of the research and new clinical trials.”
MacDonald notes that getting an accurate diagnosis is also important, because it can help people understand the inheritance pattern of their disease — who in their family might be affected or at risk — and what the course of vision loss is most likely to be. That can help people make informed career and lifestyle choices.
MacDonald has seen situations where people are initially diagnosed with X-linked RP, only to learn later, after a genetic test, that they have choroideremia. That’s important information, because on average, people with choroideremia maintain more vision over a longer period of time.
“Genetic testing is the best way to provide an absolute diagnosis,” says MacDonald. “One of the benefits of our modern technology is that we can more frequently obtain genetic information to confirm diagnosis.”
Learn more about genetic testing by reading the article “Is a Genetic Test Right for You?” from the May 2007 issue of InSight.
To find a retinal specialist in your area, call FFB’s Information and Referral Department at 1-800-683-5555. |
