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Inherited Retinal Diseases

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Inherited retinal disorders—or IRDs—are diseases that can cause severe vision loss or even blindness. Each one is caused by a gene that is not working properly, which creates an opportunity for gene therapy to help slow or stop disease progression.

Gene Therapy and Inherited Retinal Disorders

Inherited retinal disorders affect individuals of all ages, with different types progressing at different rates. However, many are degenerative, which means that they keep getting worse over time. Common types of IRDs include Leber Congenital Amaurosis (LCA), Retinitis Pigmentosa, Choroideremia, Stargardt’s Disease, and Achromatopsia. The goal of gene therapy is to correct or compensate for the faulty gene. IRDs are especially strong candidates for gene therapy treatments, due to the retina’s unique physical makeup. Compared to other organs of the body, the eye is small and easy to access for treatment administration.

Another reason that the eye is an ideal location for gene therapy is that it is considered “immune privileged”. Usually when a foreign substance—like a virus—is detected in our bodies, our immune system works hard to take care of the problem. However, certain areas of the body are immune privileged, which means that our normal immune response isn’t as active. This is typically in areas of our bodies that are very important, and may become damaged if swelling or inflammation occurs. This means that anything that is implanted into the eye—a cell with a corrected gene, for instance—is less likely to be rejected.

Goal of Treatment

It is important to note that gene therapy is not a cure for the disease, but instead a means to control disease progression. By targeting the exact cause of the disease—a faulty gene—gene therapy eliminates the need for recurring interventions. The treatment aims to only need a one-time administration, compared to some treatments for retinal disease where the patients will need direct injections as frequent as every three months.

There’s a variety of ways that gene therapy treatments can be administered to the eye. Most gene therapy approaches use a vector to deliver corrected genetic material into the cell. The most promising vectors are based on viruses—but don’t worry, any disease-causing viral materials have been removed. Vectors can be delivered a variety of ways, including an injection. There are two types of injections into the eye. Intravitreal injections are performed by directly injecting the therapy into the vitreous, a jelly-like fluid near the retina. Subretinal injections are administered into the subretinal space, allowing the therapy to be closer to the target area of the eye to correct the disease.

Treatment Pipeline

FDA-approved Luxturna is the first approved gene therapy for an inherited retinal disorder in the U.S. and is also approved for use in Europe Union. Developed by Spark Therapeutics and the Children’s Hospital of Philadelphia, Luxturna delivers a functional copy of the RPE65 gene into the eye. With your ophthalmologist or a healthcare provider, the first step to determine if you may be appropriate for treatment with Luxturna is confirming mutations in both copies of the RPE65 gene.

There are gene therapy approaches for various inherited retinal diseases that are currently in preclinical studies and clinical trials. Research and development of these therapies is being done by companies including AGTC, Editas, Gensight Biologics, MeiraGTx, Nightstar, Oxford BioMedica and Spark Therapeutics.  

To stay up to date on active and recruiting clinical trials in the U.S. or globally, visit the ASGCT Clinical Trials Finder.


There are a variety of preclinical studies underway for other treatments designed to help treat IRDs. Preclinical studies are needed before a clinical trial can begin. This stage uses animals and cell-based models to find out if a treatment is safe and likely to be successful.

Pathway to Treatment


First, the disease needs to be detected. Depending on the kind of disease, an IRD can show up at different times of a person’s life. It is good practice to see an eye doctor on a regular basis, who can help detect early signs of a serious retinal disease. IRDs can cause irreversible damage, so knowing the diagnosis as early as possible is best. Parents can consider genetic testing before or during pregnancy to determine if the child is at risk of inheriting a disease.


You may be curious how patients can participate in current clinical trials to receive an investigational treatment at no cost, while also benefiting the medical community and others who have the disease. It’s important to keep in mind that IRDs are caused by different gene mutations, and therefore have varied eligibility. Genetic testing is necessary to identify a person’s specific mutation, since more than 260 retinal disease genes have been characterized. If you think you or your child may be eligible for a clinical trial, it’s best to first speak with your primary care physician or ophthalmologist to learn more and determine if it is right for you. Then, the individual must meet the eligibility criteria, which can be based on having a specific gene mutation, the age at the time of dosing and medical history.


You may be curious of how patients can participate in clinical trials, or receive an approved treatment like Luxturna. It’s best to speak with your primary care physician or ophthalmologist to learn more and determine if gene therapy is the right option. They can help you find a specialist to administer the treatment or help you find a relevant clinical trial. As mentioned earlier, the individual must meet the eligibility criteria.

Get Involved

At this time, we do not know if or when more gene therapy treatments will be approved by the FDA and commercially available. The overall process can take several years until it is developed to the point of being safe and effective. In the meantime, you can help by becoming involved with patient advocacy organizations. They work hard to raise awareness, fund research, advocate and deliver important news about advances in the field. Many patients suffering from IRDs are unaware that treatment options are in development, and many may even be misdiagnosed. Patient advocacy organizations are a great way to connect with other families and patients affected by IRDs, in case you’re looking for support and advice. The disease may be rare, but you are never alone.

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Last Updated: 10/22/2020

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