Retinitis pigmentosa (RP) is a rare, inherited condition that can profoundly impact vision and quality of life. Our mission is to provide expert, compassionate care using the most advanced diagnostic tools and treatment options available. If you or a loved one are experiencing changes in vision, our team of retinal specialists is here to help you every step of the way.
What Is Retinitis Pigmentosa?
Retinitis pigmentosa refers to a group of genetic disorders that cause progressive degeneration of the retina—the thin layer of tissue lining the back of the eye, responsible for capturing light and sending visual signals to the brain. In RP, the retina’s photoreceptor cells (rods and cones) gradually deteriorate, leading to vision loss that typically starts with difficulty seeing at night and progresses to a narrowing of the visual field.
RP can affect individuals of any age, but symptoms most commonly begin in childhood or adolescence. Because RP is a lifelong condition, early diagnosis and ongoing management are crucial for preserving vision and maximizing quality of life.
Causes and Inheritance
RP is caused by mutations in more than 60 different genes essential for normal retinal function. These genetic changes disrupt the ability of retinal cells to process light, ultimately leading to cell death and vision loss. The condition can be inherited in several patterns, including autosomal recessive, autosomal dominant, and X-linked inheritance. Each pattern affects the risk to family members differently.
Understanding the inheritance pattern is important not only for the patient but also for family members who may be at risk. We provide comprehensive genetic counseling and testing to help patients and families understand the specific cause of their RP and guide future family planning decisions.
Symptoms and When to Seek Care
The symptoms of RP vary widely but often follow a similar progression. The earliest and most common symptom is difficulty seeing in low-light or dark environments, known as night blindness. As the disease progresses, patients typically notice a gradual loss of peripheral, or side, vision, which can eventually lead to “tunnel vision.” Sensitivity to bright lights, difficulty adjusting to changes in lighting, and loss of color vision may also occur. In advanced stages, central vision can become blurry or distorted.
Because RP is progressive, it is important to seek care as soon as symptoms appear. Early intervention allows for more effective management and access to the latest treatment options. If you or a family member experience any of these symptoms, scheduling a comprehensive retinal evaluation is strongly recommended.
Advanced Diagnostic Imaging
We are committed to providing the most accurate and thorough diagnostic services for patients with suspected or confirmed RP. Our advanced diagnostic tools include electroretinography (ERG), which measures the electrical responses of the retina’s photoreceptor cells to light, and optical coherence tomography (OCT), which provides high-resolution images of retinal layers to detect subtle structural changes.
Fundus autofluorescence (FAF) imaging helps highlight areas of the retina under stress or damage, while visual field testing maps peripheral and central vision to track progression. Genetic testing plays a critical role in identifying the specific mutation responsible for RP, enabling personalized care and access to emerging therapies and clinical trials.
Our team works closely with each patient to develop a tailored diagnostic plan, ensuring that every aspect of their condition is thoroughly evaluated.
Treatment and Support
Although there is currently no cure for retinitis pigmentosa, significant advances are being made in managing and treating the condition. Gene therapy has become available for certain genetic forms of RP, such as those caused by mutations in the RPE65 gene, offering hope for improved vision in eligible patients.
Low vision rehabilitation services provide personalized training and access to visual aids and adaptive devices to help patients maximize their remaining vision. Nutritional counseling is also available, as some research suggests that specific vitamins and supplements may slow disease progression in select cases.
We also offer access to clinical trials, giving patients the opportunity to participate in cutting-edge research. Recognizing the emotional and practical challenges RP presents, our team provides ongoing education, support groups, and referrals to community resources to help patients and families thrive.
Take the Next Step
If you are concerned about changes in your vision or have a family history of retinitis pigmentosa, don’t wait to seek expert care. Contact us today to schedule a consultation with one of our specialists. Early intervention and ongoing support can help preserve your vision and improve your quality of life.