Inherited Retinal Disease
Over 22,000 Canadians live with inherited retinal diseases (IRDs)—genetic conditions that can lead to vision loss or blindness. Fighting Blindness Canada (FBC) is at the forefront of advancing research, treatments, and support for individuals affected by IRDs.
What are Inherited Retinal Diseases?
IRDs are a group of genetic disorders caused by mutations in more than 300 identified genes. These mutations affect the retina’s ability to function, leading to progressive vision loss. Symptoms can vary, but often involve night blindness and the loss of peripheral or central vision. Though IRDs can progress at different rates, they are degenerative, meaning symptoms will usually get worse over time. There are many types of IRDs, including:
Retinitis Pigmentosa
Retinitis pigmentosa (RP) describes a group of genetic disorders that damage light-sensitive cells in the retina, leading to gradual vision loss over time as the cells die off. It is one of the most common IRDs, affecting between 1 in 3,500 to 1 in 4,000 Canadians.
Learn MoreStargardt Disease
Stargardt disease is an inherited retinal disease that causes progressive vision loss. It affects between 1 in 8,000 to 1 in 10,000 people. Central vision is usually affected first and symptoms are similar to age-related macular degeneration.
Learn MoreLeber Congenital Amaurosis
Leber congenital amaurosis (LCA) is a genetic disorder that causes severe visual impairment at birth or in early childhood. Vision loss is more rapid and severe than with RP.
Learn MoreChoroideremia
Choroideremia is caused by a change (mutation) in a gene called choroideremia or CHM, which is found on the X chromosome. It almost always affects males and is called an X-linked disease. In rare cases, females with two damaged CHM genes may also have symptoms.
Learn MoreUsher Syndrome
Usher syndrome is a genetic disorder characterized by the loss of both hearing and vision. It is the most common form of inherited deaf-blindness, accounting for approximately 50 per cent of such cases and affecting somewhere between four to 17 out of every 100,000 individuals.
Learn moreBardet-Biedl Syndrome
Bardet-Biedl syndrome, also known as BBS, is a rare genetic condition that impacts many parts of the body including the retina. People with BBS experience gradual vision loss, starting with night and peripheral vision.
Learn MoreAdvances in Treatment
Hope is on the horizon for individuals living with inherited retinal diseases. Thanks to groundbreaking research, scientists are uncovering new ways to slow, stop, and even restore vision loss. Here are just a few of the most promising areas of innovation:
- Gene therapy offers promising treatment options for certain IRDs. For example, Luxturna is the first gene therapy approved in Canada for individuals with Leber congenital amaurosis or retinitis pigmentosa caused by mutations in both copies of the RPE65 gene. This therapy introduces a functional copy of the RPE65 gene, potentially restoring vision.
- Stem cell therapy aims to replace damaged retinal cells with healthy ones grown from stem cells, offering potential to restore sight lost to retinal degeneration.
- A bionic eye, also called a visual prosthesis, is an electrical implant that is surgically inserted into the eye. It improves light sensitivity and creates a sense of vision for people who have advanced vision loss.
- Optogenetic therapy uses gene editing to add light-sensing molecules to cells. It’s aimed at creating new light-sensing cells to replace lost photoreceptors.
Funding Research
Fighting Blindness Canada is the largest funder of charitable research in Canada. In our 50+ years, we have invested more than $42 million in world-class research, leading to 850+ discoveries. FBC-funded research has enabled us to better understand the genetic causes of some IRDs, accelerating the development of new treatments.
Join the IRD Patient Registry
Genetic testing is crucial for accurate diagnosis, understanding disease progression, and identifying eligibility for clinical trials. It helps determine the specific gene mutation responsible for the condition, guiding personalized treatment approaches.
FBC’s IRD Patient Registry is a secure medical database for Canadians with inherited retinal diseases. By enrolling, you can:
- Connect with clinical trials and research studies
- Contribute to data that informs healthcare policies
- Stay informed about new treatments and resources
Participation is voluntary and confidential.
Resources & Support
- Health Information Line: FBC offers a dedicated line to answer questions about eye health, genetic testing, and available treatments at 1.888.626.2995 or at healthinfo@fightingblindness.ca.
- Educational Events: Participate in webinars and in-person conferences to learn about the latest research and connect with the IRD community.
- Fundraising: Get involved in initiatives to raise awareness and support for vision research.
- Research News: Read our Research News for updates on research, treatments and clinical trials.
- Monthly e-Newsletter: Sign up for our monthly e-newsletter to learn about the latest developments in the vision health landscape and new FBC initiatives.
View Point IRD Webinars
Our Spotlight on IRDs series and other educational events are aimed at providing insight into recent research developments, an opportunity to ask experts your questions and to hear from others with lived experience. Watch all past recordings.
IRD Spotlight: Understanding X‑linked Conditions
Learn from experts about X-linked inherited retinal diseases, including X-linked retinitis pigmentosa (XLRP), X-linked retinoschisis (XLRS), and choroideremia.
IRD Spotlight: Understanding Stargardt Disease
This session features Dr. Kenneth Fan, a distinguished board-certified medical and surgical retina specialist, who share his insights into care and treatment.
Help Support Research & Education Programs
FBC is dedicated to supporting research into blinding eye disease, including inherited retinal diseases. We also help provide education and connection programs for people living with vision loss so they can learn about their disease, find out about the latest research and connect with others facing similar challenges. Help us make a difference.
Join the Fight!
Learn how your support is helping to bring a future without blindness into focus! Be the first to learn about the latest breakthroughs in vision research and events in your community by subscribing to our e-newsletter that lands in inboxes the beginning of each month.
