Information for Newly Diagnosed Patients and their Loved Ones

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The diagnosis of a retinal degenerative disease is often overwhelming. But if you or a loved one has been recently diagnosed with an inherited retinal condition or age-related macular degeneration (AMD), getting connected to the Foundation Fighting Blindness is a great way to get educated, better manage your condition, and find support.

Here are some helpful steps you can take to get on a positive path moving forward:

Find a retinal specialist who understands inherited retinal iseases
Inherited retinal diseases (IRDs) such as retinitis pigmentosa, Stargardt disease, and Usher syndrome are rare. Many ophthalmologists and retinal doctors therefore only see IRD patients on occasion and may not have extensive experience in managing the conditions.

However, there are some retinal specialists who see and study patients with IRDs on a regular basis. Many are clinical investigators at academic research centers. These experts are often better able to manage any complications, conduct appropriate tests and exams, discuss your prognosis, and suggest potential clinical trials for emerging therapies.

The Foundation maintains a list of retinal specialists in the U.S. who care for patients with IRDs. (Note: This list is not exhaustive. Talk to your doctor about his or her IRD experience and knowledge to determine if they are a good match for you.)  

Because AMD is a common disease, most retinal specialists are familiar with appropriate care and treatments.

If you have a sudden change in vision, whether or not you have a retinal disease, see an eye doctor immediately.

Strongly consider genetic testing if you have an IRD
Virtually all IRDs are caused by mutations in a single gene. Getting a genetic test to determine which mutated gene is causing your condition can be helpful for a number of reasons including the following:

  1. Identifying the mutated gene will give you a definitive diagnosis. Some IRDs look alike and/or are difficult to diagnose. For example, Stargardt disease and cone-rod dystrophy can be similar in appearance. Choroideremia and X-linked retinitis pigmentosa can be mistaken for one another. Even the best retinal doctor can’t be absolutely certain what condition you or a loved one may have. However, a genetic test will confirm which disease is causing vision loss.
  2. Knowing the mutated gene will also confirm the inheritance pattern of the IRD – that is, which family members (current and/or future) may be at risk of having or inheriting the condition.
  3. Knowing your mutated gene can help you qualify for clinical trials of emerging therapies. Some studies may require a genetic diagnosis.

It is important to understand that genetic testing doesn’t always reveal which gene is implicated in the patient’s retinal disease.

Genetic counselors play an important role in the genetic testing process. They can determine which lab should test your DNA and what the results mean for you and your family members.

Researchers, many funded by the Foundation, have identified more than 270 genes associated with retinal degenerative diseases. New genes and mutations continue to be discovered.

For more information on the genetic testing process, visit the Genetic Testing section of the Foundation’s Web site.

Note: AMD is a complex disease – many genetic and environmental risk factors have been associated with the condition. Some people with many risk factors don’t get AMD. Some people with few risk factors do get AMD. The Foundation at this time does not recommend genetic testing for AMD.

Register at www.MyRetinaTracker.org, the Foundation’s patient registry
My Retina Tracker is the Foundation’s free, secure, global patient registry for people with IRDs. (The registry is not for people with AMD.)

Because IRDs are rare, there is limited human data available to researchers. My Retina Tracker provides valuable information and data on IRDs to pre-screened researchers and companies who are developing therapies, recruiting for clinical trials, and performing other disease-related studies.

Registrants to My Retina Tracker can provide medical, genetic, exam, and other data related to their disease. Genetic information about the disease is very helpful, though it isn’t required to register. Patients can also give permission to their doctors to enter certain data (e.g., test results).

The patient’s personal information is never available to or seen by the researchers and companies accessing My Retina Tracker. If you meet a researcher’s criteria for a clinical trial, he or she only gets an alphanumeric identifier for your record. Only the Foundation’s My Retina Tracker administrators can match the identifier to your name. The administrator will let the patient know which researcher or recruiter is potentially interested in the patient for a clinical trial. Then it is up to the patient to contact the researcher or recruiter.

My Retina Tracker funding comes from the Foundation’s membership and generous grants from the George Gund Foundation and Sofia Sees Hope Foundation.

Participate in Foundation chapters and events
Getting involved with the Foundation is a great way to stay informed about ongoing research for treatments and meet other people and families affected by retinal degenerative diseases.

The Foundation maintains a network of chapters around the U.S. and holds seminars and meetings that provide information on research, low vision resources, and other helpful topics. Joining a chapter is a great way to meet other people and families with retinal degenerative diseases in your area who can provide support and information on local resources.

Follow the Foundation online
The Foundation’s website, Facebook (40,000+ followers),  Twitter, LinkedIn and Instagram accounts are great resources for learning about the latest developments in the retinal degenerative disease space.

Visit the Diseases and Research sections of this website which provide extensive information for affected patients and families.

Visit the Living and Thriving Section of the Foundation’s Website
There are innumerable resources, including assistive and accommodative technologies and support organizations, available for people with low vision and blindness. The Foundation maintains a list of several of these resources in the Living and Thriving pages of this website.

Drive Sight-Saving Research
The Foundation is a world leader in driving the research that is eradicating the entire spectrum of retinal degenerative diseases. Much of our revenue comes from affected patients and families.

Visit the Ways to Give section of this Web site to learn about the ways you can help drive the research.

Visit www.VisionWalk.org to learn about our signature fundraising walks held around the country.