john Gill technology header image

Retinitis pigmentosa (RP)

Statistics

UK [1]

  • In the UK it is estimated that over 25,000 families have RP and on a world scale the number runs into millions
  • It is also estimated that 1 in 80 of the population carry the gene responsible for RP


What is retinitis pigmentosa?

Retinitis pigmentosa (RP) is the name given to a group of hereditary eye disorders. These disorders affect the retina, which is the light-sensitive tissue lining the back of the eye, in which the first stages of seeing take place.

In RP, sight loss is gradual but progressive. It is unusual for people with RP to become totally blind as most retain some useful vision well into old age.


Background
The retina in your eye serves a similar purpose to a film inside a camera. Light is focused by a lens at the front of the camera onto a light-sensitive film at the back, to form a picture. In a similar way, light entering your eye is focused onto a light-sensitive tissue which lines the inside of the eye at the back. This tissue is the retina.

The retina consists of two main layers, a thin one called the pigment epithelium and a thicker one, made up of many layers of cells, called the neural retina. One particular layer in this neural retina contains many millions of cells called photoreceptors, which are able to respond to light. A few million cells called cones are concentrated in the central portion of the retina. These allow us to see fine detail and colour. Away from the central portion of the retina are about 120 million cells, which are mostly rod cells. They enable us to see when light is dim and provide peripheral vision outside of the main line of sight.

When light is focused onto these rods or cones, a small electrical charge is generated (the amount depends on the amount of light) and this charge passes down the optic nerve to the brain. As each of these cells receives a slightly different amount of light and sends a different electrical pulse, the brain is able to assemble a picture.


Causes
It is now known that there are many different inherited defects causing RP. In all RP-related conditions however, the ability of the retina to respond to light is affected. The problem can be in many parts of the retina such as the rod or cone cells, or in the connections between the cells of the retina.

There are three ways in which RP can be inherited:

Autosomal dominant inheritance - This is the pattern of inheritance where RP is known to exist in a family, affecting both males and females. The probability of RP being passed from an affected parent to a child is exactly 50 per cent.

Autosomal recessive inheritance - There will usually be no known history of RP in the family but if two carriers who show no obvious symptoms have a child, there is a 25 per cent chance that he or she will have RP.

X-linked inheritance - This is a pattern of inheritance where only males develop the disease, but female members of a family are carriers. Some carriers can develop a mild form of RP. For example, if a man has X-linked RP, his sons will not develop RP, but all of his daughters will become carriers. These daughters will each have a 50 per cent chance of producing an affected son and a 50 per cent chance of daughters who will be carriers.

This inheritance pattern is sometimes difficult to identify in a family where there have been no sons for several generations, as the faulty gene could have passed down a line of female carriers and then suddenly affect a male child.


Symptoms
There is no hard and fast rule, but in most cases the early symptoms of RP develop between the ages of 10 and 30.

The most common first symptom is difficulty in seeing in poor light, for example outdoors at dusk, or in a dimly lit room. A second symptom is reduction of the visual field, in which sight is lost from the sides, or from above and below. This is often referred to as tunnel vision and means that the rod cells, and some of the outer cone cells, have been affected first.

In some RP-related conditions central vision is lost first. The first signs of this are difficulty in reading print or carrying out detailed work. All RP conditions are progressive, but the speed at which deterioration takes place varies from one person to another.

In many types of RP, glare from bright lights is an increasing problem, although some people do not experience this until the more advanced stages.

Many people with RP develop cataracts. Cataracts are a clouding of the lens at the front of the eye. They usually occur around middle age in people with RP. When they have reached a certain stage, an eye specialist may recommend their removal. The lens is then either replaced with an implant, or specially made spectacles are prescribed.

After the operation, the patient will still have RP, but if the retina has not deteriorated too far, a limited amount of vision will be restored. This is the most common origin of the "miracle cure" stories which appear from time to time in the press.

RP is just an eye condition but there are other conditions which people with RP can inherit. One example of this is Usher syndrome, where people develop the dual disability of hearing loss and retinitis pigmentosa.


Further information


Acknowledgements

The information contained in this section was collected from the following sources:


 



John Gill Technology Limited Footer
John Gill Technology Limited Footer