Retinitis Pigmentosa affects clear vision due to retinal degeneration. Our retina specialists are ready to provide comprehensive care and management tailored to your needs, ensuring you have the best support available.
Retinitis pigmentosa (RP) is a group of inherited eye diseases that affect the retina, the light-sensitive tissue at the back of your eye. It disrupts the normal process of converting light into electrical signals, essential for clear vision. Knowing about RP is important because understanding your condition helps guide the next steps in care and monitoring.
In the United States, an estimated 82,500 to 110,000 people are affected by RP, based on a prevalence rate of 1 in 3,500 to 1 in 4,000.
RP is the most common type of inherited retinal disease. In simple terms, your retina can be thought of as the film in a classic camera. Even if the front part of the eye—like a camera lens—works perfectly, any damage to the film (your retina) means that the overall picture suffers. In RP, genetic mutations interfere with the normal function of the retina’s nerve cells, including the photoreceptors (rods and cones) and the retinal pigment epithelium cells, which all need to work together for optimal vision.
The genetic changes associated with RP inhibit these cells from responding to light properly. Because RP is a group of disorders rather than a single disease, the nature and progression of vision loss varies from person to person. Some people notice changes in their vision during childhood while, in others, the changes occur gradually over time. While many experience low vision, some may even go blind.
Since RP typically affects both eyes, early diagnosis and regular eye examinations are crucial. Genetic testing can play an important role in determining the specific mutation involved, as well as helping family members understand their potential risks. Our retina specialists highly encourage comprehensive testing and counseling to tailor care that is as specific as possible to each patient.
In the early stages, patients typically experience issues that affect how well they can see in low-light conditions. Problems with night vision and difficulty seeing in dim environments are common signs that the photoreceptor cells (especially rods) are struggling to function effectively. Here are some early signs that many notice:
Finding it hard to navigate in low light or dark environments.
Struggling to see in conditions that aren’t brightly lit.
Noticing gaps or missing areas when looking to the side.
The gradual loss of peripheral vision, leaving a limited central field of view.
Visual disturbances that can indicate the ongoing degeneration of retinal cells.
Discomfort or photophobia when exposed to strong light sources.
Changes in color perception as the disease advances.
In advanced cases, overall sight can be severely impaired.
Retinitis pigmentosa occurs due to mutations in specific genes that are responsible for the normal function of retinal cells. These genetic mutations disrupt the way light-sensitive cells in the retina work, leading to their gradual degeneration. Because RP is inherited, it often runs in families and may present in multiple members across generations.
There are several types of inherited retinal diseases, and RP remains the most common among them. The specific mutation can provide insight into the rate and pattern of vision loss. For example, some types of RP show early-onset vision changes, while others progress more slowly, sometimes even stabilizing after a period of decline. Genetic testing can sometimes help determine the precise mutation, giving you a clearer picture of your situation and offering guidance regarding potential clinical trials or emerging treatments like gene therapy.
Although you cannot control the genetic factors, knowing your genetic makeup allows for better management of the condition. In some cases, genetic testing also opens the door to personalized treatments that are being developed in clinical trials, including gene therapy for specific gene mutations, such as those affecting the RP65 gene. For individuals with this mutation, there is an FDA-approved gene therapy option available.
During a comprehensive eye exam, your eye care professional will dilate your pupils using eye drops to get a better view of the back of your eye. This allows for a thorough evaluation of the retina’s condition. The examination usually includes:
This examination can help our retina specialists gauge the extent of retinal changes and decide on further testing if necessary.
An electroretinography test measures the electrical responses of your retinal cells when exposed to light. During this procedure, a series of light flashes are presented, and the electrical activity generated by your retina is recorded. This test is particularly useful because it evaluates how well the rods and cones are functioning, which can be significantly affected by RP. The ERG offers our retina specialists a window into the electrical performance of your retina, even when structural changes might not be visible through imaging tests alone.
If you're experiencing symptoms of Retinitis Pigmentosa or need assistance, reach out to one of the top retina specialists listed with Specialty Vision for personalized care tailored to your needs.
OCT is a noninvasive imaging test that captures detailed cross-sectional images of your retina. With this technology, our retina specialists can measure the thickness of the retina and detect any areas of thinning that might signal cell loss. The OCT test is pivotal in assessing how the retinal layers are holding up, and it guides decisions regarding treatment and monitoring the disease's progression over time.
This imaging technique helps reveal changes in the retinal pigment epithelial cells by capturing the natural fluorescence emitted by these cells. It provides additional information that can be used to assess the health of your retina and monitor any disease progression. This noninvasive test is useful both for diagnosis and for planning ongoing management strategies.
Managing RP effectively often involves regular check-ups and adaptations as the disease progresses. Discussing all available options with our retina specialists helps ensure that you receive personalized care designed to maintain your quality of life. They can provide recommendations not only for low vision aids and protective eyewear but also suggest lifestyle changes that may support overall eye health.
Many individuals with RP benefit from the use of low vision aids and assistive devices. These tools can make day-to-day activities easier by enhancing any remaining vision. For instance, magnifiers and specially designed technology can help identify objects, read, and even recognize faces. Low vision rehabilitation is tailored to your specific visual needs, ensuring that you remain as independent as possible while adapting to any loss of peripheral vision.
Exposure to intense light can sometimes exacerbate the symptoms of RP. To prevent further discomfort or damage, wearing sunglasses and other protective eyewear is recommended. These not only reduce glare but also help shield your eyes from light that might worsen symptoms such as photophobia (light sensitivity). Our retina specialists can help you select the right pair of protective glasses suitable for your conditions.
RP can sometimes come with other associated conditions that may affect vision. For example, some patients develop cystoid macular edema (CME), which is characterized by fluid buildup in the central part of the retina. CME requires careful treatment, as fluid accumulation can further impair vision. Cataracts, another common complication, cause the lens of your eye to become cloudy. Cataract surgery can often restore clarity by removing the cloudy lens and replacing it with a clear artificial lens. Addressing these related conditions can help stabilize your overall vision and improve quality of life.
One of the most exciting areas in RP treatment is gene therapy. For individuals with specific genetic mutations, such as those in both copies of the RP65 gene, there is an FDA-approved gene therapy option available. This therapy, known as voretigene neparvovec-ryzl (Luxturna®), targets the underlying genetic issue and can help slow vision loss. While this treatment is only applicable to certain genetic profiles, ongoing clinical trials offer hope for a wider range of RP patients in the future. In addition to gene therapy, researchers are exploring other innovative solutions, such as retinal prostheses, sometimes referred to as artificial retinas. These devices are designed to provide some visual perception to patients with severe vision loss by bypassing the damaged photoreceptor cells. Although these options are still under investigation or available only in specialized cases, they represent a promising frontier in managing RP.
Discuss with our retina specialists which specific lifestyle habits may benefit you based on your unique situation. They can offer personalized advice tailored to your overall health and the nature of your RP.
Since RP is genetically driven, there is no guaranteed way to prevent the condition from developing if you are predisposed. However, taking steps to maintain your overall health and protect your vision cannot be overstated. A few lifestyle modifications and proactive strategies can help you take care of your eyes as best as possible:
Maintaining regular eye check-ups is crucial for early detection of any changes in your vision. Even if you do not notice significant changes, these routine visits provide valuable information to help guide your care.
Wearing sunglasses and avoiding prolonged exposure to bright lights can help reduce discomfort and further stress on your retina.
A balanced diet rich in vitamins and antioxidants, along with regular physical exercise, supports overall eye health and can contribute to your general well-being.
If you're experiencing symptoms of Retinitis Pigmentosa or need assistance, reach out to one of the top retina specialists listed with Specialty Vision for personalized care tailored to your needs.
Find expert care for Retinitis Pigmentosa with top specialists. Learn about symptoms, diagnosis, and treatment options available for managing this inherited eye condition.
