WHAT IS RETINITIS PIGMENTOSA?
The term retinitis pigmentosa (RP) was coined by Frans Cornelis Donders, a Dutch pioneer of vision and psychological sciences, in the middle of the 19th century. He used these words to describe the distinctive appearance of the retinas of a group of patients suffering from vision loss. The term “retinitis”, meaning inflammation of the retina, is somewhat misleading as RP is not an inflammation, but an inherited, slow-paced degeneration of the retina. The term “pigmentosa” refers to the characteristic pigment clumping seen on examination of the retina in many forms of RP.
Today, RP refers to a large group of inherited degenerative diseases of the retina. It has been found to occur in men and women of all race and ethnicity. It even occurs naturally in some animals. RP is a relatively rare eye disorder. Reference: www.ffb.ca
There are two main cell types within the retina: rods and cones. Cone cells are present throughout the retina. The center of the retina (the macula) has the greatest amount of cones, and helps with central (reading) vision and color vision. Rod cells are present throughout the retina, except for the very center (fovea). Rods help with night vision and side vision. In RP, the rod cells and eventually the cone cells stop working, causing vision loss. Reference: www.kellogg.umich.edu
Additional information about Retinitis Pigmentosa can be found here:
The first signs of Retinitis Pigmentosa usually occur in early childhood, when both eyes typically are affected. Night vision can be poor, and the field of vision may begin to narrow.
When RP first starts to appear, the light-sensing cells that are responsible for vision in dim light (rods) gradually deteriorate and seeing at night becomes more difficult.
During later stages of Retinitis Pigmentosa, only a small area of central vision remains, along with slight peripheral vision. Reference: www.allaboutvision.com
Additional information about RP symptoms can be found here:
Retinitis Pigmentosa is caused by defects in certain genes that result in damage to the retina. RP can be inherited in 3 ways:
- An autosomal (non-sex-related) dominant chromosome (50% chance of inheritance)
- An autosomal recessive chromosome (often a low chance of inheritance)
- An X-linked (female-linked) chromosome, where inheritance often is demonstrated only in males and is passed through unaffected mothers, known as carriers
Additional information about RP genetics can be found here:
While there are no therapies today to cure RP, there are two important options for helping individuals with the disease. The first is to make the most of existing vision by using low vision therapy and aids. Second, it may be possible to slow further vision loss with the use of antioxidant vitamins. Meanwhile, research is ongoing. Scientists have effectively treated some animals with RP. Several treatment trials in humans are expected to begin in the near future.
Despite the lack of treatment for RP, general eye checkups are important because people with RP are still at risk for other kinds of eye problems that may affect anyone in the general population. Some may be treatable with surgery or medications. Regular visits to an RP specialist can also make you aware of current advances as we learn more about RP and treatments that may help you. Reference:www.kellogg.umich.edu
Additional information about Aids for low vision can be found here:
For information about Retina Implants please refer to the following links:
Many research groups are working to develop treatments and cures for RP. Research work is carried out in different directions:
- GENE IDENTIFICATION RESEARCH
There are over 55 RP-causing genes known. Fifty more genes cause other diseases with features similar to RP. More genes are being discovered all the time. Participating in RP research may help researchers find new RP-causing genes or develop a better understanding of this disease. This information can be used to produce better treatments and ultimately a cure for RP. Studies of many members of the same family may also be useful to identify RP-causing genes. Sometimes, if we know the mutation causing your RP, we can give you more information about disease progression or risks to family members. Reference: www.kellogg.umich.edu.
- RESEARCH FOR NEW THERAPIES
Scientists believe that researching the genetic causes of RP will help in the development of future therapies. Research constantly produces new information, so it is difficult to report here on the “latest” findings.The best way to stay up to date is to ask your RP specialist about current research and clinical trials at your next visit. Reference: www.kellogg.umich.edu.
- STEM CELL THERAPY
Journal articles related to the latest Stem Cell research:
- VITAMIN TREATMENT
Journal articles related to the latest Vitamin treatment research can be found here:
HOW TO LIVE WITH RP
It may be very hard to deal with a diagnosis of RP. Many people have never heard of the disease and are unsure of how RP will affect them. It is important to realize that most of the time the disease progresses slowly. For the most part, you will not have to learn new skills overnight. People who have RP lead successful and full lives. There are people to help you along the way. Many kinds of services are available if and when they are needed.
It is perfectly natural for someone with vision loss to feel anxious, fearful, angry, or unhappy. If your child has RP, it is also natural to have feelings of uncertainty, anxiety, and fear over what the future may hold for him or her. It is critical that you discuss these feelings with your medical team. Support groups can also be very helpful. Reference: www.kellogg.umich.edu
Below are the links to organizations that can provide information about RP and about living with low vision.
Booklets about Retinitis Pigmentosa:
Below are the links to the organizations providing disability care and support services to people with impaired vision.
Facebook Support Groups
Support groups bring together people facing similar issues. Members of support groups often share experiences and advice. It can be helpful just getting to talk with other people who are in the same boat.
Search for the following closed groups in Facebook:
- Retinitis Pigmentosa
- Retinitis Pigmentosa Support Group (The RP Family)
- Retina Australia – Youths
- Retinitis Pigmentosa Update.
- Spouses of People with RP
- C2orf71 Retinal Degeneration Group
If you are aware of additional groups that would be of benefit to Retina Australia WA members and other individuals affected by RP please forward the suggestions to our office. Alternatively if you have any queries or require assistance finding this groups please feel free to contact the office on +61 8 9388 1488 or email to firstname.lastname@example.org.