Eyes Retinitis Pigmentosa

Overview

Retinitis pigmentosa (often called RP) is the name for a group of inherited eye conditions that slowly damage the retina. The retina is the thin layer of light-sensitive tissue at the back of the eye — it works a bit like the film in a camera, turning light into signals your brain can understand. In RP, certain cells in the retina break down over many years. The cells most often affected first are the rod cells, which help you see in dim light and notice things at the edges of your vision. That is why early signs are usually trouble seeing in the dark and a gradual narrowing of side (peripheral) vision. RP is not a single disease — there are many types, and how quickly it progresses varies a lot from person to person.

RP is not common. It is the most common inherited condition affecting the retina, but overall it affects roughly 1 in 3,000 to 4,000 people worldwide. Most general practice doctors will see only a few cases in their career.

RP can affect anyone, in any part of the world and in all ethnic groups. Signs often first appear in childhood or the teenage years, and many people are diagnosed in their 20s or 30s. Some milder forms are not noticed until later in life. Because it runs in families, having a relative with RP or another inherited retinal condition raises the chance of having it.

Symptoms

Common symptoms

• Trouble seeing in dim light or at night (often called night blindness) — for example, difficulty finding your way in a dark cinema or restaurant
• Losing side (peripheral) vision, which can feel like 'tunnel vision' over time
• Bumping into things or not noticing people or objects at the edge of your view
• Needing more time for your eyes to adjust when moving between bright and dark places
• Sensitivity to bright light or glare
• Colours looking less vivid than they used to
• Blurred or reduced central vision later in the course of the condition

Symptoms in children

• Tripping, bumping into furniture or seeming clumsy in poorly lit places
• Not wanting to go out or play when it starts getting dark
• Struggling to see the board in a dim classroom, or holding things closer to read
• Being slower than others to adjust when coming indoors on a bright day
• Parents or teachers noticing the child does not spot things off to the side

Symptoms in older adults

• Increasing difficulty with night driving or reading in low light
• More glare and slower adjustment between indoors and outdoors
• Cloudy vision from cataracts, which are more common in people with RP
• Blurred central vision if fluid builds up in the middle of the retina (the macula)
• Some adults are diagnosed later in life with a milder, slower form of RP

Causes

Main causes

• Changes (variants) in genes that are important for the health of the retina. These are inherited from one or both parents.
• Inheritance can follow different patterns: a person may need only one changed copy of a gene from one parent (dominant), one changed copy from each parent (recessive), or a change on the X chromosome (X-linked, which usually affects males more severely).
• In many people there is no known family history — this can happen with recessive forms, or when a gene change happens for the first time in that person.
• Sometimes RP is part of a wider condition, such as one that also affects hearing (for example Usher syndrome).

Risk factors

• Having a close relative (parent, sibling, child) with RP or another inherited retinal condition
• Being born to parents who are blood relatives, which raises the chance of recessive conditions
• Having certain other conditions that can come with RP, such as hearing loss
• Having a known gene change linked to retinal disease found through genetic testing

When to see a doctor

See a doctor urgently if:

• You notice your vision getting worse quickly over days rather than years
• You suddenly see new flashes of light or a large number of new floaters
• You have eye pain, redness or a severe headache with changes in vision
• Your child suddenly starts bumping into things or cannot see well in dim light

Book a routine appointment if:

• You find it harder to see in dim light or at night than you used to
• You are missing things at the edges of your vision, or people seem to 'appear' at your side
• A close relative has been diagnosed with retinitis pigmentosa or another inherited eye condition
• You notice increasing glare or slower adjustment between light and dark
• Your child's teacher mentions they seem to struggle in low light or do not notice things off to the side

Diagnosis

An eye specialist (ophthalmologist) usually makes the diagnosis. They will ask about your vision, your family history and your general health, then examine your eyes carefully. The specialist looks at the back of your eye (the retina) after putting in drops that widen the pupil. In RP the retina often shows a pattern of changes that the specialist can recognise. They may also check your side vision and how well your retina responds to light. Genetic testing and advice from a specialist eye genetics service can help confirm the exact type and give useful information for your family.

Tests that may be done

• A detailed eye examination, including looking at the retina at the back of the eye
• Visual field test — checks how much you can see off to the sides
• Electroretinogram (ERG) — a painless test that measures the eye's electrical response to light and shows how well the retina is working
• Optical coherence tomography (OCT) — a scan that takes detailed pictures of the layers of the retina
• Photographs or scans of the retina to track changes over time
• Colour vision and contrast sensitivity tests
• Genetic testing (a blood or saliva sample) to look for the gene change involved
• Hearing checks if a condition such as Usher syndrome is suspected

What to expect at your appointment

Most of these tests are quick and painless. The drops used to widen your pupils blur your vision and make bright light uncomfortable for a few hours, so it helps to arrange a lift home or take sunglasses. You may be offered several appointments rather than getting all the answers on the first visit. Waiting for genetic test results can take weeks or months. Bring a list of questions, and if you can, take someone with you — it helps to have a second pair of ears.

Treatment

At the moment there is no cure for RP and no treatment that can reverse sight that has been lost. Care focuses on protecting and making the most of the vision you have, spotting and treating problems early (such as cataracts or fluid under the retina), and helping you stay independent and safe. Research is very active, and treatments for some specific rare inherited retinal conditions have already been developed — your eye specialist can tell you whether any current clinical trials or treatments might be relevant to your exact type of RP.

Self-care at home

• Have regular eye examinations as often as your specialist advises, so problems can be picked up early
• Use good, bright lighting at home and at work, and keep a small torch or phone light handy
• Try magnifiers, large-print books, high-contrast labels and other low-vision aids — an low-vision service can advise on what suits you
• Wear tinted glasses or a hat in bright sunlight to reduce glare
• Keep rooms and stairs free of clutter, use night lights, and check rugs and cables to reduce trips and falls
• Ask your doctor before taking high-dose vitamin or supplement products, as some can be harmful in large amounts
• Avoid smoking and protect your eyes from injury with safety glasses when needed
• Consider learning mobility skills, such as using a cane, before you feel you need them — it is easier to learn early

Medical treatments

There is no medicine that cures RP. Specialist care aims to keep your eyes as healthy as possible and to treat problems that can make vision worse. If fluid builds up in the central retina, your eye specialist may offer treatment for it. If a cataract (clouding of the lens) develops, surgery can often improve vision. Low-vision rehabilitation — including magnifiers, lighting advice, technology such as screen readers or phone magnifiers, and mobility training — is a central part of care. For a small number of very specific inherited retinal conditions, gene-based treatments are available, and other research treatments are being studied in clinical trials. Your specialist can tell you whether any of these apply to you.

When is surgery considered?

Surgery is not used to treat RP itself. It may be offered if you develop a cataract, which is more common in people with RP, or if fluid under the retina needs treating. Rarely, surgery is needed for a detached retina or other eye problems. Your eye specialist will discuss the risks and benefits with you before any operation.

Living with this condition

Most people with RP carry on with work, study, hobbies and family life, adjusting gradually as their vision changes. Practical steps make a big difference: better lighting, organised spaces, learning routes by memory, using public transport or lifts instead of driving at night, and using a phone camera to zoom in on small print. It can help to tell people around you — at work, college or among friends — what you find difficult, so they can help without fuss. Many people find it useful to register as visually impaired or blind with their local service, because this can open the door to practical and financial support.

Lifestyle tips

• Build a routine of regular eye checks and keep a note of any changes to talk about
• Stay active — exercise is good for general health and mood, and can be adapted for lower vision
• Use smart devices, audiobooks, voice assistants and screen magnifiers to make daily tasks easier
• Arrange your home so things always live in the same place, and use high-contrast colours for switches and labels
• Connect with others who have RP — shared tips from people in the same situation can be more useful than anything else
• Think ahead about driving and tell the relevant licensing authority if your vision changes, so you know where you stand

Diet and exercise

There is no special diet that treats RP. A balanced diet rich in fruit, vegetables and healthy fats supports general health, including eye health. Do not start high-dose vitamin or supplement products on your own — ask your doctor or pharmacist first, because very large doses of some vitamins can be harmful. Regular exercise, such as walking, swimming or cycling indoors, helps your mood, sleep, balance and general fitness, and can be adapted to suit your vision. If you are unsure how to exercise safely with reduced vision, ask your doctor or a physiotherapist for advice.

Mental health and emotional wellbeing

Being diagnosed with a condition that affects your sight can bring a mix of feelings: shock, grief, worry about the future, frustration, or low mood. These feelings are completely normal, and they often come and go over time. It can help to talk to someone — a partner, friend, counsellor or a service for people with sight loss. If you feel persistently low, anxious or overwhelmed, please speak to your doctor, who can offer support and treatment. If you ever have thoughts of harming yourself or ending your life, contact your local crisis line or emergency services right away — help is available, and you deserve it.

Prevention

RP cannot be prevented, because it is caused by gene changes that a person is born with. What you can do is protect the sight you have: go for regular eye checks, avoid smoking, protect your eyes from injury, and get help early for problems such as cataracts or glare. If you are worried about passing RP on to children, genetic counselling can explain the chances clearly and set out the options available to you.

Screening programmes

There is no general screening programme for RP. However, if someone in your family has RP or another inherited retinal condition, it is worth telling your doctor so that relatives can be offered an eye examination and, where appropriate, genetic testing and counselling. People with RP are usually advised to have regular eye checks, because other treatable problems such as cataracts can develop.

Complications

If left untreated

• Gradual loss of side vision, which can lead to 'tunnel vision' and difficulty getting around safely
• Reduced night vision that makes going out in the evening or driving at night difficult
• Cataracts (clouding of the lens) developing earlier than usual
• Fluid build-up in the central retina, which can blur straight-ahead vision
• Loss of central vision in some people, particularly in later stages or with certain types of RP
• Higher risk of falls and accidents because of poor vision in low light
• Low mood, anxiety or social isolation linked to sight loss

Long-term outlook

RP affects each person differently. Some people keep useful central vision for many years, and a small number have forms that progress very slowly. Others lose more sight sooner. There is no cure yet, but research into inherited retinal conditions is moving quickly, with gene-based and other treatments being studied and, for a few specific rare types, already available. Good eye care, low-vision support and rehabilitation can help you keep your independence, stay safe and carry on doing the things that matter to you. Many people with RP live full, active and satisfying lives.

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