Gene Therapy for Inherited Retinal Diseases

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Inherited retinal diseases are a group of rare, progressive eye conditions that often occur early in life and can lead to permanent blindness. Gene therapy with a drug called Luxturna can now halt or even reverse vision loss for some inherited retinal diseases. Duke is one of 15 centers in the U.S. to provide this treatment. Our team, which includes inherited retinal disease specialists, genetic counselors, retinal surgeons, and others accurately diagnose inherited retinal diseases and determine if treatment is appropriate for you or your child.

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About Inherited Retinal Diseases

Inherited retinal diseases are caused by a change (mutation) in one or more genes and cannot be prevented. These mutations change the structure and function of the retina and cause impaired vision, and in some cases, complete vision loss. Common inherited retinal diseases include the following.

Retinitis Pigmentosa

Retinal cells that sense light gradually die, eventually leading to significant vision loss. A common early symptom, which usually occurs in childhood, is the inability to see at night or in low light, followed by loss of peripheral vision.

Leber Congenital Amaurosis 

Severe vision problems occur as early as infancy. Children may be extremely farsighted and have crossed eyes or eyes that are constantly in motion because of their inability to focus (nystagmus).

Stargardt Disease

Damage to the macula -- the part of the retina that provides straight-ahead vision -- causes central vision loss. Symptoms usually occur during childhood, but the disease might not be detected until adulthood because it progresses gradually.

Duke Eye Center

Learn about the care offered here so you can prepare for your appointments.

Ocular Genetic Therapy for Inherited Retinal Diseases

Candidates for Ocular Gene Therapy
Gene therapy is a new and promising treatment for some people with retinitis pigmentosa and Leber congenital amaurosis. To qualify, you or your child must have two copies of a mutated gene called RPE65 and enough functioning cells left in the retina for the treatment to be effective. Adults and children over one year old can receive the treatment.

Luxturna Injection
Ocular gene therapy is performed in an operating room under anesthesia. An eye surgeon removes the clear gel inside the eye and injects a drug called Luxturna under the retina. It contains a healthy copy of the RPE65 gene. This one-time treatment restores the retina's ability to respond to light, usually beginning a month after the injection. Six days following the first injection, the second eye is treated. 

Ocular Gene Therapy Recovery 
Ocular gene therapy is an out-patient procedure, meaning you or your child can go home the same day. After the procedure, the eye will be covered with a patch for 24 to 48 hours.

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Testing for Inherited Retinal Diseases

Comprehensive Eye Exam
Our inherited retinal disease doctors perform an in-depth, dilated eye exam. This includes retinal imaging and electroretinography, a test that measures the electrical response of the eye’s light-sensitive cells. With young children, these tests are often performed under sedation. We also assess visual acuity and your ability to see in low light.

Genetic Testing
If you or someone in your family has an inherited retinal disease, you or your child may be at risk for developing the condition and should be tested. Genetic testing is essential for accurately diagnosing your disease and determining if treatment is possible. Our genetic counselors will ask about your family history and perform specialized genetic testing. 

Best Eye Hospital in North Carolina

Where you receive your care matters. Duke University Hospital is proud of our team and the exceptional care they provide. They are why our ophthalmology program is ranked seventh in the nation and is the highest-ranked program in North Carolina, according to U.S. News & World Report for 2023–2024.

Why Choose Duke

Sophisticated Retinal Imaging
Our researchers are national leaders in the use of sophisticated imaging technology and interpreting results. Our years of experience and extensive resources allow us to recommend the best treatment options for you or your child.

One of a Handful of Centers to Offer Ocular Gene Therapy
Luxturna, the only FDA-approved gene therapy for inherited retinal diseases, can only be administered at ocular gene therapy treatment centers where retinal specialists, genetic counselors, pharmacists, and nurses have specialized training and experience caring for patients with inherited retinal diseases. Duke is one of the select centers in the U.S. able to offer ocular gene therapy.

Respected Retinal Leaders
Our retinal specialists include nationally renowned experts who deliver lectures, train others on the latest advances in eye care, and help develop treatment guidelines that are followed by eye-care professionals around the world. Our doctors are also recognized research leaders who focus their efforts on learning more about the causes of retinal diseases and developing promising new therapies and imaging methods. The field of retinal surgery was pioneered at Duke by the former chair of our ophthalmology department. 
Compassionate, Supportive Environment
To help you and your loved ones manage your retinal condition and maximize your quality of life, we offer patient support services, educational materials, low vision rehabilitation program, and a dedicated social worker.

This page was medically reviewed on 07/18/2023 by