Retinitis Pigmentosa Causes, Symptoms, and Treatments

Retinitis pigmentosa (RP) is a group of rare, genetic eye diseases affecting the cells in the retina. It can one day lead to profound vision impairment.

But doctors and researchers are working to find new and better ways to detect and manage RP.

RP treatment can help you make the most of your vision.

To learn more about RP or make an appointment, call the UPMC Vision Institute at 412-647-2200 or 1-800-446-3797.

What Is Retinitis Pigmentosa (RP)?

Doctors define RP as a group of rare eye diseases that get passed on through your genes. They all affect the retina, the light-sensitive layer of tissue in the back of the eye.

In a healthy eye, the retina captures the light coming into the eye. It then converts the light into nerve signals the brain interprets as vision.

The retinal pigment epithelium (RPE) and the photoreceptor cells are the retina's outermost layers. RP impairs the function of these cells, causing them to break down over time, leading to vision loss.

RP affects about one in 3,000 to 4,000 people worldwide and it is the most common inherited retinal disorder. About 100,000 people in the U.S. have it.

What Are the Main Causes of Retinitis Pigmentosa?

Most people with RP have a genetic condition – a broken gene – that gets passed down in families. We know of at least 60 different gene changes that cause RP.

A genetic counselor can help you learn more about your risk of passing RP to your children.

Very rarely, RP occurs along with other genetic conditions such as Usher syndrome. The word syndrome represents a condition encompassing multiple disorders.

Usher syndrome is the most common cause of combined hearing and vision loss.

What are the Risk Factors and Complications of Retinitis Pigmentosa?

RP risk factors

The main risk factor is a family history of RP. But many cases present as isolated.

Complications of RP

RP complications include:

• Loss of night vision.
• Gradual loss of side vision (tunnel vision).
• Problems seeing colors.
• Gradual loss of central vision.
• Partial or complete vision impairment.

People with RP are also more likely to have other eye problems, such as:

• Cataracts.
• Cystoid macular edema (swelling of the retina).
• Refractive errors.

Does retinitis pigmentosa lead to blindness?

RP progresses differently for everyone. In rare cases, it can lead to total loss of vision. But more commonly, your vision slowly gets worse.

Treatment and rehabilitation can help you make the most of the vision you have.

Retinitis Pigmentosa Symptoms and Diagnosis

What are the warning signs and symptoms of RP?

RP symptoms can appear in childhood or teenage years and gradually worsen as you age. Some people with RP lose their vision more quickly than others.

Symptoms of RP include:

• Loss of night vision. This is often the first sign of RP. Adults with RP may have trouble driving at night or finding their way in a dark place.
• Gradual loss of peripheral (side) vision, also known as "tunnel vision." This happens when you can't see objects around and below you. Your field of vision gradually narrows, and you may bump into things.
• Loss of central vision. In the later stages of RP, you may also lose sight in your central visual field. This causes issues with reading or other close-up work.
• Loss of color vision. Some people with RP also have a hard time distinguishing color.
• Sensitivity to bright light. People with RP often have problems adjusting to being in bright sunlight.

How do you diagnose retinitis pigmentosa?

To diagnose RP, your doctor will perform a dilated eye exam. They'll give you eye drops to widen your pupil. This lets them get a better view inside your eye.

Your eye doctor may also use the following tests for RP:

• Visual field testing. This test measures your side vision and helps find possible blind spots.
• Genetic testing. Your doctor may run blood tests to learn more about your genetic makeup. Genetic tests can help identify your type of RP and if gene therapy could help.
• Fundus imaging. These tests use different types of light to take a picture of your retina.
• Optical coherence tomography. This test takes highly detailed pictures of your retina using light waves, like ultrasound tests use sound waves.
• Electrophysiological testing such as electroretinography. These tests measure how well the retina responds to light by measuring its electrical activity. It also shows how well it delivers the visual information to the brain. (It's like how an EKG measures your heart's health.)

How Do You Treat Retinitis Pigmentosa?

The experts at the UPMC Vision Institute offer a range of cutting-edge treatments for RP.

While there's no cure for RP, treatments may slow it down and help you adapt to the vision you have.

RP treatments include:

• Low vision aids. Aids such as special magnifying glasses can help you see better. You may be able to use special computer programs that translate a visual scene into spoken words.
• Rehabilitation programs. Occupational therapists can help you gain more independence at home.
• Vitamins and supplements. Taking certain supplements, such as lutein and fish oil, can slow down the progression of RP.
• Gene therapy. Some gene therapy treatments can replace a broken gene with a working one. Others make materials that help reduce the risk of the retinal cells dying or make more cells reactive to light.
• Clinical trials. You may be eligible to take part in cutting-edge research through clinical trials.

Is there a cure for retinitis pigmentosa?

Currently, there's no cure for RP.

There is an FDA-approved treatment for only one type of RP caused by a gene called RPE65. But low vision treatment can make the most of your remaining sight even if a different gene causes your RP.

It's crucial for anyone with RP to have routine eye exams. Your eye doctor can keep track of your symptoms and treat any other problems early on.

What percentage of people with retinitis pigmentosa completely lose vision?

Most people with RP lose vision but not completely.

Every person is different. There are many low-vision treatments and aids that can help you make the most of the sight you do have.

Make an Appointment for RP Care

To plan a visit with an eye expert at the UPMC Vision Institute, call 412-647-2200 or 1-800-446-3797.