Retinitis pigmentosa | blindness.org
What is retinitis pigmentosa?
Retinitis pigmentosa (RP) refers to a group of inherited diseases causing retinal degeneration. The cell-rich retina lines the back inside wall of the eye. It is responsible for capturing images from the visual field. People with RP experience a gradual decline in their vision because photoreceptor cells (rods and cones) die. Forms of RP and related diseases include Usher syndrome, Leber`s congenital amaurosis, rod-cone disease, Bardet-Biedl syndrome, and Refsum disease, among others.
Retinitis pigmentosa (RP) refers to a group of diseases which tend to run in families and cause slow, but progressive loss of vision. The retina is the tissue which lines the inside of the eye and sends visual images to the brain. In RP, there is gradual destruction of some of the light sensing cells in the retina.
Causes and Symptoms
7q31.1-q32
дегидрогеназа инозин-5-прим-монофосфатази
RP10
АТ
180105
PRPF31
19q13.4
попередник 31-го фактора процесингу мРНК
RP11
АТ
600138
CRB1
1q31-q32.1
гомолог-1 білка "crumbs" дрозофіли
RP12
АР
600105
PRPF8
17p13.3
Відео: Living with Retinitis Pigmentosa: My RP Experience - Molly Burke
попередник 8-го фактора процесингу мРНК
RP13
Відео: Stem Cell Clinical Trial for Retinitis Pigmentosa: Rosie # 39; s Story
АТ
600059
TULP1
6p21.3
You may also be offered genetic tests to try and work out which genes are faulty. Testing is carried out in regional genetics centres and your eye specialist (ophthalmologist) could refer you to one. Testing for RP is complex and is not useful or possible yet for all types of RP. Ask your ophthalmologist or genetic counsellor to discuss testing with you.
Symptoms
Early symptoms
In most of the more common forms of RP, the first symptoms occur between childhood and the age of 30. The first symptom you usually notice is that you find it difficult to see in poor light, such as outdoors at dusk, or in a dimly lit room. This is often referred to as "night blindness". While most people find it takes their eyes about 20 minutes to adapt to dim light, if you have RP it will either take you much longer or it will not happen at all.
A second symptom is often the loss of some of your peripheral vision or peripheral visual field. This means that when you`re looking straight ahead you become less able to see things either to the side, above or below. Difficulty seeing in low light and loss of peripheral vision are both signs that your peripheral rod cells are being affected by RP.
If you have early loss of peripheral vision it may mean it is no longer safe for you to drive. You are required by law to report a condition that might affect your sight, such as RP, to the Driver and Vehicle Licensing Authority (DVLA) so they can carry out regular tests. You can find more information in our Driving and sight loss leaflet or by visiting rnib.org.uk/driving.
In some RP-related conditions, central vision is lost first because the central cone cells are affected first. You might find it difficult reading print or carrying out detailed work at this time. In these types of RP, your peripheral vision is affected in the later stages.
Later symptoms
All RP conditions are progressive, but the speed and pattern of deterioration of sight varies from one person to another. For most people, the first effect of RP is the gradual loss of peripheral vision. This means that you can start to miss things slightly to the side of you or trip over or bump into things you would have seen in the past. Most people with RP eventually have a very restricted visual field, leaving only a narrow tunnel of vision.
Most people with RP retain useful central vision through their twenties, which means your ability to read and recognise faces is not greatly affected. By 50 years of age most people`s central vision is affected to the extent that reading is a problem without the help of a magnifier.
What Causes Retinitis Pigmentosa?
29 з початкових 34 пацієнтів повністю пройшли дослідження. Була виявлена статистично значуща різниця в амплітуді адаптованої до темряви b-хвилі між бета-каротинової групою і групою плацебо (+8,9 V OD, +7,8 V OS в порівнянні з -7,9 V OD, -3,9 V OS). Чи є цей результат також і клінічно значущим?
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Відео: Retinitis Pigmentosa treatment in China - RP treatment
Due to the genetic inheritance patterns of RP, many isolate populations exhibit higher disease frequencies or increased prevalence of a specific RP mutation. Pre-existing or emerging mutations that contribute to rod photoreceptor degeneration in Retinitis Pigmentosa are passed down through familial lines- thus, allowing certain RP cases to be concentrated to specific geographical regions with an ancestral history of the disease. Several hereditary studies have been performed to determine the varying prevalence rates in Maine (USA), Birmingham (England), Switzerland (affects 1/7000), Denmark (affects 1/2500), and Norway.] 46 [ Navajo Indians display an elevated rate of RP inheritance as well, which is estimated as affecting 1 in тисячі вісімсот сімдесят вісім individuals. Despite the increased frequency of RP within specific familial lines, the disease is considered non-discriminatory and tends to equally affect all world populations.
Research] edit [
Future treatments may involve retinal transplants, artificial retinal implants,] 47 [gene therapy, stem cells, nutritional supplements, and / or drug therapies.
2006: Stem cells: UK Researchers working with mice, transplanted mouse stem cells which were at an advanced stage of development, and already programmed to develop into photoreceptor cells, into mice that had been genetically induced to mimic the human conditions of retinitis pigmentosa and age -related macular degeneration. These photoreceptors developed and made the necessary neural connections to the animal`s retinal nerve cells, a key step in the restoration of sight. Previously it was believed that the mature retina has no regenerative ability. This research may in the future lead to using transplants in humans to relieve blindness.] 48 [
2008: Scientists at the Osaka Bioscience Institute have identified a protein, named Pikachurin, which they believe could lead to a treatment for retinitis pigmentosa.] 49 [] 50 [
2008: Додати Retinitis pigmentosa was attempted to be linked to gene expression of FAM46A] 51 [
Children with RP may benefit from low vision aids that maximize existing vision. For example, there are special lenses that magnify central vision to expand visual field and eliminate glare. Computer programs that read text are readily available. Closed circuit televisions with a camera can adjust text to suit one s vision. Portable lighting devices can adjust a dark or dim environment. Mobility training can teach people to use a cane or a guide dog, and eye scanning techniques can help people to optimize remaining vision. Once a child is diagnosed, he or she will be referred to a low vision specialist for a comprehensive evaluation. Parents may also want to meet with the child s school administrators and teachers to make sure that necessary accommodations are put in place.
Відео: Everything about Retinitis Pigmentosa (RP) & its Ayurvedic Treatment
For parents of children with RP, one challenge is to determine when a child might need to learn to use a cane or a guide dog. Having regular eye examinations to measure the progress of the disorder will help parents make informed decisions regarding low vision services and rehabilitation.
Targeted therapies for RP
An NEI-sponsored clinical trial found that a daily dose of 15,000 international units of vitamin A palmitate modestly slowed the progression of the disorder in adults. Because there are so many forms of RP, it is difficult to predict how any one patient will respond to this treatment. Talk to an eye care professional to determine if taking vitamin A is right for you or your child.
For diagrams, photographs, and images of the eye, visit NEI`s Photos and Images page.
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Last Updated: December 27, 2013
