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.
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.
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.
