Most people who are diagnosed with retinitis pigmentosa (RP) already have some indication that they have eye problems. They usually suffer from night blindness, or sometimes they think they are just a klutz because they frequently run into things due to peripheral vision loss. Once an individual is told they have RP, they often have a number of questions due to the uncertain course of their disease. People are often anxious, angry, unhappy and fearful, which includes the person with the disorder, a child with RP and as their parents.
1. What can I expect in the future?
There is a great deal of anxiety in not knowing if or when you might become blind, yet, knowing this will likely occur eventually. Retinitis pigmentosa is actually a group of different types of inherited diseases that affect the retina. The future will depend partially on which genetic disease you have inherited, and what treatments are appropriate in your situation.
2. What is the cause of retinitis pigmentosa?
This is an inherited, genetic disorder; therefore, it is not caused by bacteria, virus, injury or any external factor. A number of genetic defects actually give faulty messages to the cells in the retina of your eye that cause vision loss. Epigenetic factors are also currently being investigated.
3. What exactly does retinitis pigmentosa do to the eyes?
There are two types of photoreceptor cells in the retina, which is the film that records images and transfers them to your brain. RP can affect your eyes in two different ways. There are rods and cones. Rod cells are required for night and peripheral vision, and they are the ones more often attacked first. Cone cells are responsible for color and central vision.
4. What are all the symptoms of retinitis pigmentosa?
The majority of the people with this disease notice a loss of night vision first, and this becomes apparent quite often in childhood. Navigating or reading in low light can be a problem. As the disease progresses there will be blind spots in the peripheral vision. The loss of the peripheral vision is often called “tunnel vision.” Children may not realize anything is wrong, but they cannot play soccer very well, or they may often trip over things that are located in that blind spot. Some people have a problem with concentric glaring lights.
The course of this disease is not the same for everyone and symptoms may progress at different rates. Often the disease progression is slow, but after decades the central vision will be affected. Most people are considered legally blind by the age of 40.
5. How common is retinitis pigmentosa?
This is one of the most common genetic diseases that affect the retina. Approximately one person in 4,000 has RP in the United States and Europe, which are approximately 100,000 people in the United States. This disease affects men and women of all races, cultures and ethnic backgrounds. Approximately one person in 80 carry a recessive gene for RP, which means this person does not have the disease, but they can pass in on if they have children.
6. How do they diagnose RP?
There are several tests in addition to getting a complete medical history and having an eye exam. Some of the common tests are a visual acuity test, an examination with an ophthalmoscopy, dark adaptation test and an ultrasound of the eye. There a few other specific tests depending on the symptoms of the individual.
7. When should we tell our child they have retinitis pigmentosa RP?
Once you have a diagnosis, making a decision as to what and how much to tell you child is difficult. If the child finds out about the disease through a third party, there could very well be trust issues.
This is a decision that can only be made by the parents. If the child is a teenager, they are probably aware that there is some type of problem, but they obviously do not know the whole story. Most physicians recommend that parents tell their child that they have this disease and answer question that the child asks. The technical details can be given to the child as they age and ask appropriate questions. Always tell the truth, but do not volunteer information they are not ready to hear. Always let you child know that they can accomplish most any goal they set for themselves.
8. What treatments are effective to fight this disease?
There are no drugs to fight this disease. However, there are numerous clinical studies in progress. One of the best choices is taking 15,000 IU of vitamin A palmitate daily. Do not load your diet up with a lot of foods containing vitamin A as this amount is sufficient. DHA is a fatty acid that has found helpful when taken with the vitamin A. A dosage of 1200 daily is sufficient. For people with mid-peripheral visual field loss, lutein 12 mg daily has been shown to slow the loss. Do not take a vitamin E supplement.
One other thing that is beneficial is to wear sunglasses and a hat every time you go outside. The good news is that great strides are being made in stem cell research for this disorder.
Other supplements currently being investigated are a form of Bilberry, algae and Tauroursodeoxycholic acid (TUDCA).
A recent study at Johns Hopkins showed acupuncture to be effective in improving vision in patients with RP. There are few practitioners who specialize in treating RP and in most cases measurable results should be determined within 10 treatments. It is advised to find an acupuncturists with experience in treating RP and/or with specialized training.
9. Is there any assistance to help my family and I emotionally cope with PR?
The Foundation Fighting Blindness has numerous resources for individuals and families. It is a good idea to get involved in their network as you meet people with the same problems you are experiencing. Additionally, there are a wide variety of websites that are useful. Several are on Facebook and there are also many other websites. Some are focused on providing information, but most of them are a place to talk to other people to share your experiences. They help each other with suggestions, and it is a generally supportive atmosphere.
10. How can I find a doctor that specializes in this disorder?
The Foundation Fighting Blindness can provide you with a list of conventional retinal specialists that have indicated their interest in treating patients with retinitis pigmentosa. These doctors have not been screened by the organization, so they are not held liable if you are unhappy with your choice. You can also ask your regular doctor for a recommendation. Also, I would like to invite you to call my office to see if my treatment may be right for you. You can reach me at (908) 818-0701.
