Information for patients and families Managing your inherited retinal disease

Ben Shaberman, Senior Director of Scientific Outreach at the Foundation Fighting Blindness: The diagnosis of a retinal degenerative disease is often overwhelming. But if you or a loved one has been diagnosed with an inherited retinal condition, here are some helpful steps you can take to get on a positive path moving forward.

A picture of the retina under a microscope

Find a retinal specialist who understands inherited retinal diseases

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.

Headshot of Ben Shaberman

Ben Shaberman, Senior Director of Scientific Outreach at the Foundation Fighting Blindness

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. Even the best retinal doctor can’t be absolutely certain what condition you or a loved one may have. However, a genetic test will often 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 have identified approximately 300 genes associated with retinal degenerative diseases. New genes and mutations continue to be discovered.

The Foundation Fighting Blindness provides a no-cost genetic testing program for patients in the US.

Foundation Fighting Blindness - My Retina Tracker

Register at the Foundation’s patient registry

My Retina Tracker at www.MyRetinaTracker.org is the Foundation’s free, secure, global patient registry for people around the world with IRDs. It is free, secure, and designed to be accessible for people with vision impairments.

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 donors 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 over 40 chapters around the US. and holds webinars, 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.

If you are outside of the US, visit www.FightingBlindness.org to learn about the latest research and clinical trials underway for emerging IRD therapies.