What are the symptoms? In these conditions the retina slowly degenerates losing its ability to transmit images to the brain. In advanced stages of the conditions, characteristic clumps of pigment appear in the retina. Often the first symptom is night blindness, followed by narrowing of side vision leading to ‘tunnel’ vision. What are the causes? All cases of RP are inherited and a large number of genes have been implicated in causing the condition. In most cases, the peripheral rod cells are affected first with the central cone cells being affected later. RP can also be associated with other problems such as hearing loss. These rare conditions are referred to as RP syndromes, for example, Usher syndrome. How is it diagnosed? A number of tests can be used to diagnose RP: retina examination – eye drops are given to dilate the pupils so the retina can be viewed easilyretinal photographs and specialised retinal imaging – a photograph may be taken of the retina using a special camera.visual field test – this checks whether peripheral vision has been affected. The person looks straight ahead at a particular point in the bowl-shaped screen in a darkened room and then dim lights or a moving light are presented in the peripheral field. Each time a spot dots of light is seen the person being tested clicks a buttoncolour vision tests – the person will be asked to look at a booklet that shows numbers composed of different coloured dotselectro-diagnostic tests – the electrical activity of the retina is measured under different lighting conditions and this identifies layers of the retina that are not working properly. This involves having a small wire or thread placed on the eye lids and another on the scalp whilst having watching flashing lights. How is it treated? Treatment focuses on managing the symptoms of RP. Wearing sunglasses to protect the retina from ultraviolet light may help preserve vision. For those patients who have poor central vision it can help to see a low-vision specialist, who can help people adapt to vision loss. Regular visits to an eye care specialist, who can detect cataracts or swelling of the retina – both of which can be treated – is essential. Some studies have suggested that treatment with antioxidants (such as high doses of vitamin A palmitate) may slow the disease but high doses of vitamin A can cause side effects. Several clinical trials are in progress to investigate other dietary treatments for RP, including the omega-3 fatty acid, docosahexaenoic acid (DHA). Other new treatments such as the use of biological growth factors and gene replacement therapy are being evaluated in clinical trials. Microchip implants that are placed under or on the surface of the retina and stimulate the nerve cells directly are in the early stages of development for treating blindness associated with RP and other serious eye conditions. Inheritance patterns and prenatal diagnosis Inheritance patternsFor RP inheritance may be autosomal dominant, autosomal recessive or Inheritance of RP may be autosomal dominant, autosomal recessive or X-linked. Affected families should be referred to a genetics centre for information and support Prenatal diagnosisPrenatal diagnosis is now possible in some forms of RP and other inherited retinal disorders, but only in those cases where the genetic change causing the condition has been identified. Is there support? Retina UK Helpline: 0300 111 4000Email: services@retinauk.org.ukWebsite: retinauk.org.uk Retina UK is a Registered Charity in England and Wales No. 1153851. Retina UK is the national charity for families living with inherited retinal dystrophies. They fund research and provide information and support to those affected by inherited sight loss and the professionals who support them. They support anyone with the following visual impairments: Retinitis Pigmentosa (RP), Rod Cone dystrophy, Cone Rod dystrophy, Choroideremia, Leber congenital amaurosis (LCA), Bardet-Biedl syndrome (BBS), Usher syndrome, Stargardt disease. Their helpline is operated by volunteers all directly affected with a genetic eye disorder, who genuinely understand the issues faced with daily living. They also offer Talk and Support – for people who prefer a regular call from someone who is affected with inherited sight loss and can offer a listening ear, provide information, hints and tips. Group details last updated October 2020.
What are the symptoms? In these conditions the retina slowly degenerates losing its ability to transmit images to the brain. In advanced stages of the conditions, characteristic clumps of pigment appear in the retina. Often the first symptom is night blindness, followed by narrowing of side vision leading to ‘tunnel’ vision.
What are the causes? All cases of RP are inherited and a large number of genes have been implicated in causing the condition. In most cases, the peripheral rod cells are affected first with the central cone cells being affected later. RP can also be associated with other problems such as hearing loss. These rare conditions are referred to as RP syndromes, for example, Usher syndrome.
How is it diagnosed? A number of tests can be used to diagnose RP: retina examination – eye drops are given to dilate the pupils so the retina can be viewed easilyretinal photographs and specialised retinal imaging – a photograph may be taken of the retina using a special camera.visual field test – this checks whether peripheral vision has been affected. The person looks straight ahead at a particular point in the bowl-shaped screen in a darkened room and then dim lights or a moving light are presented in the peripheral field. Each time a spot dots of light is seen the person being tested clicks a buttoncolour vision tests – the person will be asked to look at a booklet that shows numbers composed of different coloured dotselectro-diagnostic tests – the electrical activity of the retina is measured under different lighting conditions and this identifies layers of the retina that are not working properly. This involves having a small wire or thread placed on the eye lids and another on the scalp whilst having watching flashing lights.
How is it treated? Treatment focuses on managing the symptoms of RP. Wearing sunglasses to protect the retina from ultraviolet light may help preserve vision. For those patients who have poor central vision it can help to see a low-vision specialist, who can help people adapt to vision loss. Regular visits to an eye care specialist, who can detect cataracts or swelling of the retina – both of which can be treated – is essential. Some studies have suggested that treatment with antioxidants (such as high doses of vitamin A palmitate) may slow the disease but high doses of vitamin A can cause side effects. Several clinical trials are in progress to investigate other dietary treatments for RP, including the omega-3 fatty acid, docosahexaenoic acid (DHA). Other new treatments such as the use of biological growth factors and gene replacement therapy are being evaluated in clinical trials. Microchip implants that are placed under or on the surface of the retina and stimulate the nerve cells directly are in the early stages of development for treating blindness associated with RP and other serious eye conditions.
Inheritance patterns and prenatal diagnosis Inheritance patternsFor RP inheritance may be autosomal dominant, autosomal recessive or Inheritance of RP may be autosomal dominant, autosomal recessive or X-linked. Affected families should be referred to a genetics centre for information and support Prenatal diagnosisPrenatal diagnosis is now possible in some forms of RP and other inherited retinal disorders, but only in those cases where the genetic change causing the condition has been identified.
Is there support? Retina UK Helpline: 0300 111 4000Email: services@retinauk.org.ukWebsite: retinauk.org.uk Retina UK is a Registered Charity in England and Wales No. 1153851. Retina UK is the national charity for families living with inherited retinal dystrophies. They fund research and provide information and support to those affected by inherited sight loss and the professionals who support them. They support anyone with the following visual impairments: Retinitis Pigmentosa (RP), Rod Cone dystrophy, Cone Rod dystrophy, Choroideremia, Leber congenital amaurosis (LCA), Bardet-Biedl syndrome (BBS), Usher syndrome, Stargardt disease. Their helpline is operated by volunteers all directly affected with a genetic eye disorder, who genuinely understand the issues faced with daily living. They also offer Talk and Support – for people who prefer a regular call from someone who is affected with inherited sight loss and can offer a listening ear, provide information, hints and tips. Group details last updated October 2020.