What is Retinitis Pigmentosa?

Cartoon image of a medical professional talking with a patient

Retinitis Pigmentosa (RP) is a genetic condition that affects the eyes – causing gradual changes in vision as the retina, which helps us see, becomes less able to work properly over time.

What is it?

Retinitis Pigmentosa (RP) is a group of rare eye conditions that can cause permanent changes to your vision by affecting the retina. The retina is the light-sensitive layer of tissue at the back of the eye.

RP usually runs in families. It can vary widely in its age of onset, progression and severity.

People with RP might first start to notice trouble seeing at night. The peripheral (side) vision slowly becomes less sensitive and narrows, making it difficult to see objects to the side when looking straight ahead, particularly in dim light. Over time, the field of vision can narrow until only some central vision remains (also called tunnel vision).

In Australia, it is estimated that approximately one in 3,000 people have RP, which equates to about 8,900 individuals. It generally affects both males and females equally across all ethnic groups.

Forms of Retinitis Pigmentosa

There are typically two forms of RP – the recessive form and the dominant form. Understanding the inheritance pattern of each form of RP can provide insights into the likelihood of transmission within families.

Recessive form: For this type, both parents must carry the gene for RP even if they don’t have the disease themselves. Each child then has a one in four chance of having RP. This type generally develops symptoms later and may progress more slowly.

Dominant Form: In this type, only one parent needs to carry the RP gene, and each child has a one in two chance of inheriting it.

Symptoms

The signs and symptoms of RP can vary, but typically include:

Night blindness or difficulty seeing in low light environments.
Tunnel vision or loss of peripheral (side) vision.
Difficulty adapting to changes in light levels.
Photophobia (sensitivity to light).
Gradual loss of central vision in advanced stages.

Causes and risk factors

RP is most often caused by changes in genes that control cells in the retina. These changed genes can be passed down from parents to children.

If RP is in your family, you can speak with your doctor or a specialist called a genetic counsellor to learn more about the risk of passing RP on to your children.

Sometimes RP happens as part of other genetic conditions, like Usher syndrome. Usher syndrome causes both vision changes and hearing loss.

Onset age and progression

The onset and progression of RP symptoms vary greatly based on genetic factors and individual cases, but there are common symptomatic patterns:

Early stage – (Childhood to early adulthood) Initial symptoms often include loss of night vision, and difficulty seeing in low-light conditions. Parents may notice that children with RP have trouble moving around in the dark or adjusting to dim light.

Mid-stage – (Adolescence to midlife) Loss of peripheral vision or the prominence of “tunnel vision”, which can affect activities like driving and navigating space.

Advanced stage – (Midlife to later life) In the late stages of RP Central vision loss may occur, significantly impacting reading, facial recognition, and other detailed visual tasks. Complete blindness is rare, but can occur in severe cases.

Diagnosis

An optometrist or ophthalmologist can check for RP with some of these methods:

Dilated eye exam This exam is simple and painless — your eyecare professional will administer eye drops to dilate (enlarge) the pupil and then check your eyes for RP and other eye conditions.
Visual field test Used to check peripheral (side) vision. This is a seated visual responsive test.
Electroretinography (ERG) This test checks how well the retina responds to light. Tiny sensors are placed on the eye or eyelid, and flashes of light are shown. The retina’s response to these flashes creates small electrical signals, which the ERG records.
Optical coherence tomography (OCT) This test uses light waves to take a detailed picture of your retina.
Fundus autofluorescence (FAF) imaging In this test, the eye doctor checks for areas of healthy retina and areas where the retina is not working.
Genetic testing May also be conducted to confirm the type of gene mutation, to learn more about the type of RP, which can provide insight into how RP symptoms may change over time.

Monitoring

Get regular eye exams
It’s very important for people with RP to attend regular eye exams. Your eyecare professional can help manage your symptoms and eyecare needs.
People with Retinitis Pigmentosa can be more susceptible to a few other eye conditions, including Cataracts, Glaucoma, Macular Degeneration and Myopia (near-sightedness).

Click here to learn more about these conditions.

Regular eye exams can help your eye doctor find and treat these conditions early on to ensure you make the most of your vision.

Living with Retinitis Pigmentosa

There’s no cure for RP, but low vision aids and rehabilitation (training) programs can help people with RP make the most of their vision and manage symptoms.

Stay connected
Embrace adaptive strategies and connect with supportive communities.

Vitamin supplementation
You can also talk with your eye care professional about vitamins and supplements for eye health.

Low Vision Aids
Some assistive devices can help maximise remaining vision. These could include magnifiers or special lenses.

Home adaptions
Home adaptions like improved lighting, high-contrast markings and organised layouts can enhance accessibility and ease of daily tasks.

Making the most of the vision you have

If you have RP, you can learn how to make the most of your vision. Often you can still do many of your favourite things with special low vision tools. These can include different kinds of magnifying tools, handheld computers, and electronic devices such as your smart phone or tablet and more.

Learn how to modify your handheld digital devices by clicking here.

You can also learn how to use your existing vision to help you do things. An orthoptist can teach you how this works. They also can help you find many low vision support services and tools.

Ask your ophthalmologist to help you find a low vision orthoptist in your area.

The goal is to learn new ways to be as independent as possible.

Always speak to your GP and eyecare professional about the best treatment options for you