Retinitis pigmentosa (RP) is the name given to a group of hereditary eye conditions called retinal dystrophy.
Retina dystrophy, such as RP, affects the retina behind the eye, and over time the retina becomes non-functional.
This means that RP causes gradual but permanent changes that reduce vision.
How much vision you lose, how quickly this happens, and the age at which it begins depends on the type of RP you have.
Changes in your eyesight occur over the years, not months, and some people lose their eyesight more than others.
What are the symptoms of RP?
With retinal dystrophy like RP, the rod and pyramidal cells of the eye gradually fail.
Depending on the type of RP you are using, you may notice the first symptoms between the ages of 10 and 30 after infancy.
Some people are asymptomatic until later in life.
With RP, the first symptom you notice is that you dont look like a person without vision in dimly lit places, such as at dusk or at night. This is often referred to as night blindness.
People without vision can fully adapt to dim light in 15-30 minutes, but when using RP it takes much longer or does not occur at all.
You may start to have trouble seeing things in the peripheral vision. You may miss things on either side of you, and you may trip over or bump into what you might have seen in the past.
As the RP progresses, peripheral vision is gradually lost, leaving a narrow central vision. This is often referred to as tunnel vision. You may still have a central vision until you are in your 50s, 60s, or older.
However, advanced RP often affects central vision, which can make it difficult to read and recognize the face.
RP is a progressive state. In other words, eyesight keeps getting worse year by year.
In many cases, changes in vision can occur suddenly in a short period of time. That way, you may get some vision for quite some time. However, the vision may change further in the future.
This may mean that you need to continue to re-adapt to lower levels of vision. The type of RP you are using can affect how quickly these changes occur.
What is the cause of RP?
RP is a hereditary disease caused by a defect in one of the genes involved in maintaining retinal health.
In RP, defective genes cause retinal cells to cease functioning and eventually die over time.
Researchers have identified many of the genes that cause RP and defects in it, but there are still other genes to discover.
Genetic testing
You can perform a genetic test to find out if there is a defective gene that causes RP.
This allows you to identify the defective gene that causes RP and to find out if your child has a defective gene that they may inherit.
A genetic test uses a blood test to look at a gene to see if it is defective.
Testing for RP and other hereditary retinal dystrophy is complex. Not all forms of these conditions are identified, as new defective genes are still being discovered.
Genetic counseling
Genetic counseling helps you understand the type of RP you have, how it may affect you in the future, and the risks of communicating that condition to the child you may have. Useful.
Genetic counseling is usually recommended when undergoing a genetic test. A genetic counselor will ask you more about your family tree and try to understand how RP is passed down to your family.
A genetic condition in your family can cause emotional concerns. Talking to a genetic counselor may help you and your family discuss your familys eye condition.
If you are thinking of starting a family, knowing the possibility of passing in any condition you have can help.
What tests are used to detect RP?
Optometrists (also known as opticians) can examine the retina to detect RP. If there are early signs of classic RP, there is a small but characteristic dark pigment mass around the retina.
Changes in peripheral vision can be detected by visual field testing. If your optometrist is worried after your eye exam, they can refer you to an ophthalmologist (hospital ophthalmologist) for further examination.
There are various tests that can diagnose RP. These tests also allow you to monitor how the RP changes over time.
Your ophthalmologist may be able to say that you have RP when you get the results of these tests, but the type of RP you have and the long term to your eyesight Tests that may not be known exactly if the effects are not genetic.
Some tests you may need to take include:
Source: Royal National Institute of Blind
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