RP FAQ
(Frequently asked Questions)
From a pamphlet from the Foundation Fighting Blindness

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INFORMATION ABOUT RETINITIS PIGMENTOSA


"My blindness is something I've been confronting my whole life." Tom Tarrant is a successful young San Francisco businessman, a selfstarter who's pursued a fast career track with an MBA from Berkeley. He has retinitis pigmentosa, first diagnosed when he was six years old. "I guess I've been confronting it in bits and pieces," he reflects. "My prognosis to get progressively more blind as I get older is not always easy to deal with. But it's critical to understand how to deal with it, to understand that this disease is not stable."


Tom Tarrant is one of approximately 100,000 people in the United States and more than 1.5 million worldwide with retinitis pigmentosa (RP), the name given to a group of diseases that cause degeneration of the retina. Retinitis pigmentosa and related conditions are difficult diseases to describe because they occur in many variations and progress at different rates for different people.


If you or someone you know has RP, you may feel confused about what this means and uncertain or frightened by what the future may hold. This booklet will give you information that can address some of your concerns. There are many feelings and experiences that people with RP share. Knowing and understanding what it is; learning how others have handled the changes it brings to their lives; and becoming aware of the efforts develop effective prevention and treatment, are valuable to anyone with RP.


The information provided here will answer many of your questions, but because of the wide variety of retinal degenerative diseases, the general descriptions given here can provide only an introduction to the subject. If you suspect that you or someone you know has a retinal degenerative disease, or any other eye problem, that individual should consult an eye care professional. Only by knowing the full details of an individual's physical eye examination and family history can the nature and degenerative progress of the condition be understood, its full meaning explained, and appropriate care determined.


What is retinitis pigmentosa?

Retinitis pigmentosa refers to a group of diseases that affect the retina. The retina is the delicate innermost layer of tissue that lines the eye. It contains layers of light receiving cells called photoreceptors that are connected to the brain by the optic nerve. If you think of the eye as a camera receiving images, then the retina is the film on which those images are recorded. Beneath the retina is the retinal pigmented epithelium (RIPE). The RIPE supports the function of photoreceptor cells in the retina.


There are two types of photoreceptor cells in the retina: cone cells and rod cells. Cone cells are concentrated in the center of the retina (called the macula), and are responsible for central and color vision. Rod cells are outside the macula and are required for peripheral vision and for night vision. Both cone and rod cells convert light into electrical impulses which travel through several types of nerve cells to the optic nerve, which then carries the signal to the brain, where "seeing" actually occurs.


With RP, photoreceptor cells begin to degenerate and eventually stop functioning. A diagram at the back of this booklet details the anatomy of the eye, and may help better explain the location of some of the parts of the eye that are described above.


What causes retinitis pigmentosa?

The basic cause of retinitis pigmentosa is thought to be genetic. The disease is programmed into your cells and not caused by injury, infection or any other external agent. Genetic defects, or mutations, give faulty messages to the retinal cells, leading to their progressive degeneration. This in turn, leads to vision loss.


How is RP inherited?

Genetics is a complex subject, and The Foundation Fighting Blindness has prepared another booklet, "The Inheritance of Retinal Degenerations," to explain this topic in detail. (This can be ordered by using The Foundation's Publication Order Form.) There are so many different forms of RP, which fall within one of three standard inheritance patterns.


Each type of inheritance will create a different pattern of affected and unaffected family members. For example, unaffected parents could have affected children, and affected parents could have both affected and unaffected children. In some families, only males will be affected, while females will carry the trait but not typically exhibit it. There are also isolated cases in which one individual appears to be the only member of a family to have a retinal degeneration.


A gene for RP can be either autosomal dominant, autosomal recessive, or X-linked. Autosomal means that the gene is attached to one of the 22 pairs of chromosomes that are the same in males and females; X-linked (formerly referred to as sex linked) means that the gene is carried only on the X chromosome, which is one of the two chromosomes that help determine the sex of a child. If the gene is dominant, only one parent need have it for a child to be affected; if the gene is recessive, the disease can only show up in a child if both parents are carriers of the mutant gene; if it is X-linked, only males will be affected while females will be carriers of the gene but not typically experience serious vision loss themselves.


It is important to remember that because RP is an inherited disorder, it commonly affects other members of a family. If someone in your family is diagnosed with a retinal degeneration, it is strongly advised that all members of the family contact an eye care professional.


How common are inherited retinal degenerations?

Retinal degenerations affect men and women of all ages, races, cultures, and ethnic backgrounds. The broad range of retinal degenerative diseases affects at least six million Americans.


Approximately 100,000 people in the United States are affected by retinitis pigmentosa or Usher syndrome, which is a variation of RP that also impairs hearing. It is estimated that one of every 80 people carries a recessive gene for RP, although this does not mean they or their children will necessarily have the disease. Approximately six million Americans are diagnosed with age related macular degeneration, a disease that causes a loss of central vision. In addition, there are a number of less common forms of retinal degeneration.


What are the odds that I will pass the RP gene on to my children?

"Deciding whether or not to have children is a personal decision that everyone with RP has to make, and it is not an easy one," says Diane Ryan, who has RP. (She is also Tom Tarrant's mother.) Although she did not know her own diagnosis until after her children were born, she has shared her sons' struggles with the decision of whether to take the risk of passing an RP gene to their offspring.


You can get the best information about the likely inheritance pattern of the disease in your own family by consulting with a genetic counselor or eye care professional who specializes in hereditary retinal degenerations. They can help you learn how the disease is inherited in your family and the chance of passing it on to your children.


Most of the Research Centers receiving support from The Foundation Fighting Blindness provide genetic counseling as part of their diagnostic evaluation. A complete listing of Foundation Research Centers can be found in the Research Update booklet in this information packet. The Foundation can also provide a list of genetic counseling information services. If you would like to receive this material, please contact The Foundation's Constituent Service office.


What are the symptoms of RP?

Tom Tarrant: "I don't ever remember seeing in the dark. I just don't know what that's like. I remember Halloween when I was a little boy, walking into poles."


RP symptoms can vary. In a person with classic or typical RP, night vision and peripheral (or side) vision will be affected initially. Night blindness is one of the earliest and most frequent symptoms of RP, and it refers to difficulty seeing not only at night but also in dimly lit places, such as restaurants and movie theaters. The loss of peripheral vision is often called "tunnel vision." If you imagine peering down a tunnel, able only to see what is in front of you and nothing to the side, this is what it is like to lose peripheral vision. As vision loss progresses, the "tunnel" becomes more and more narrow. In the later stages, some patients may also lose central vision.


Some cases of RP do not follow the classic symptoms of the disease. These patients may instead first experience some loss of central vision and color perception followed by night blindness.


What is common to all cases of RP is the progressive nature of the disease. When symptoms first appear they may be virtually imperceptible, particularly in an individual who is not aware of a family history of RP and thus not as observant of symptoms as an individual who has watched the disease develop in other family members. But symptoms may progress at different rates even in members of the same family. Once one adjusts to low vision, further adjustments will likely be necessary as the progression continues.


Does night blindness always mean RP?

Not necessarily. Night blindness can be a symptom of a number of other retinal disorders besides RP, and it may not always indicate a progressive eye disease. Accurate diagnosis requires evaluation by an eye care professional who is familiar with retinal degenerations.


How and when can RP be diagnosed?

"I was diagnosed at 14 years old and before that I always remember not being able to see at night and being 'klutzy'," remembers Rob Lee. "I was bad at soccer and basketball and didn't know why. I figured that I saw the way everyone else did, but just wasn't as good as others. Being diagnosed with RP was somewhat of a relief to me because it gave me a reason why I couldn't do certain things and why I was a little different from my friends and brothers."


Many people with RP, especially older people, tell stories of the difficulty they experienced in getting an accurate diagnosis of their condition. Increasingly sophisticated diagnostic technology and growing awareness among physicians is helping to make situations like this less common. RP is usually diagnosed in young adulthood, although certain forms of RP are evident in early childhood and other forms may not appear until later in life.


Are there specialized tests and instruments to look for RP?

Tests can definitively diagnose RP. There are two basic categories: those that are psychophysically based, and those that are electrophysiologically based.


Each test has a specific function, and it may not be necessary for your doctor to use all of the tests described here to test your vision. If you have questions about why your doctor is or isn't performing a certain test or using a certain instrument, it is important that you ask your doctor to explain. Never be afraid to ask your doctor why he or she is doing something. Your doctor appreciates an informed patient and will be happy to answer your questions.


Psychophysical testing is likely to be done at some time during your diagnosis. These tests include:


* Acuity tests which measure the accuracy of your central vision at specific distances in specific lighting situations. This is the psychophysical test that people are most familiar with and typically involves a standard eye chart.


* Color testing which can help determine the status of your cone cells. Since cone cells are the retinal cells that interpret color, your doctor will be better able to determine the health of these cells through your performance on these tests. There are several types of color tests which measure various aspects of vision.


* A visual field test uses a machine to measure how much peripheral vision you have. Often this test is conducted with a computerized piece of equipment that maps your visual field (the area you can see) and can provide a more detailed definition of your vision loss.


* A dark adaptation test which will measure how well your eyes adjust to changes in lighting. Information from this test can help the doctor to better understand the current function of your rod cells, which are the retinal cells responsible for night vision.


Photos are often used to record the changes in your retina that occur as a result of RP and are used to compare these changes over a period of time. Fundus photos, as they are typically called, are taken of the back of your eye (the word "fundus" means farthest to the back).


The electrophysiological test used most frequently is called an electroretinogram or ERG. The ERG records the electrical currents that are produced in the retina by a light stimulus. In healthy photoreceptors, there is a characteristic intensity and speed of the electrical signal, which becomes reduced as photoreceptor cells degenerate.


To administer an ERG test, the patient sits in a very dark room to adjust their eyes to the dark. Once their eyes are adjusted, the technician places a double patch on one eye and administers eye drops and a contact lens in the other. The ERG machine flashes bright lights at the eye with the contact lens and records the way the photoreceptor cells in the eye respond to the light, Both eyes are tested the same way. Although patients report discomfort from the flashing lights, ERG testing is a very valuable diagnostic tool.


How quickly does RP progress?

"Every year I lose a little bit of vision, and every year I do some adjusting," notes Tom Tarrant, who describes himself as "still having a lot of useable vision," although he is legally blind.


While gradual vision loss is the common feature of almost all forms of RP, there is no predictable rate of loss, even for people in the same family. Usually the progression is quite slow. Vision sometimes appears to remain stable between annual eye examinations.


Does exposure to light affect loss of vision in people with RP?

There is no scientific evidence that normal levels of light increase vision loss. People with RP may use their eyes in ordinary light without restriction. Many people with RP find they are more comfortable avoiding bright lights and bright sunlight. As a precaution, people with RP and other retinal degenerations are encouraged to protect their eyes from longterm exposure to bright sunlight until more is known about this subject. Good quality sunglasses are recommended for bright days. photoreceptors, there is a characteristic intensity and speed of the electrical signal, which becomes reduced as photoreceptor cells degenerate.


Aside from the gradual progressive loss of vision, can a person with RP seem to have better and worse vision at different times?

Yes, this is often the case. A number of factors might account for good days or bad days for someone with RP. For example, some people feel they see better on cloudy days; others feel they do not see as well on cloudy days. Fatigue and emotional stress may also temporarily affect vision. People who have RP report that it often takes a lot of effort to see and that the emotional and physical effort is exhausting and makes one feel as if they don't see as well when they are tired. However, none of these circumstances seem to affect the progression of RP.


Does pregnancy have an effect on RP?

Some women have reported that their RP has progressed more rapidly during pregnancy than it ever had previously. However, because RP is rare, this issue is difficult to study in a systematic way. If you are pregnant, or thinking of becoming pregnant, you should make sure that your obstetrician/gynecologist is aware of your eye problems, and that your eye care professional knows of your pregnancy.


What about cataracts and RP?

It is not unusual for an individual with RP to develop a cataract, which is a clouding of the lens of the eye. Cataracts that significantly interfere with vision can be surgically removed. While cataract surgery cannot improve vision loss due to retinal degeneration, it can lessen the vision loss caused by the cataract. Because surgery is not advised for everyone, it is important to discuss the details of your individual case with an eye care professional that is familiar with retinal degenerations.


What is Cystoid Macular Edema?

Cystoid macular edema is a well recognized complication associated with RP. It is thought to occur in about fifty percent of RP cases at some stage in the disease. Cystoid macular edema causes a build up of fluid in the macula. The macula is the central portion of the retina responsible for perceiving fine visual detail. Some, but not all, patients who develop cystoid macular edema will experience a reduction of their central vision. Ophthalmologists can treat this complication with a drug called acetazolamide, known under the brand name Diamox. Only about half of those treated with Diamox will respond to therapy. Cystoid macular edema can also sometimes spontaneously clear. If you notice a decrease in your central vision, see your ophthalmologist immediately. It is also a good idea for patients with RP to have regular eye examinations.


Can RP lead to total blindness?

Blindness, to most people, means a complete loss of sight. As they grow older, some people with RP do become blind in this sense. However, many will retain a small amount of vision such as light perception.


A majority of people with RP are legally blind by the age of 40. People who are legally blind usually maintain a good deal of functional vision supplemented by adaptive technology. Legally blind individuals are those whose best visual sharpness or acuity (with glasses or contact lenses, if needed) is 20/200 or worse in their better eye; or whose visual field, regardless of acuity, is restricted to a 20 degree diameter (10 degree radius).


Can people with RP drive?

This is a difficult question. Many people with RP do drive legally, and do not have problems. Legal vision requirements for a driver's license vary widely from state to state. It would be best to discuss your visual limitations and their effect on driving with your eye care professional.


Driving is a symbol of independence and people with progressive vision loss may be unwilling to admit that their vision impairment may affect safe driving. Often people with RP speak of "near miss" accidents that force them to confront their vision loss and acknowledge that they can no longer drive safely. It is important to remember that your driving affects not only you but other drivers and pedestrians, and that the results of a wrong decision can be life threatening.


Will my career be affected by RP?


People with RP and other retinal degenerative diseases continue to lead productive lives and pursue their career goals. By determining appropriate equipment, training, and other job modifications in a chosen field, potential concerns and problems can be identified and possibly postponed. Vocational counseling, offered through educational institutions or state or local agencies, can be very helpful when planning or pursuing a career. Staff from these agencies can also be used as consultants when additional technology or adaptations become necessary in the workplace.


How much independence is possible for people with RP in advanced stages?

Mobility independence is enhanced by living in or near a metropolitan area where public transportation is readily available. Many aids, services, and techniques are available to assist people with RP to conduct the daily business of living like cooking, cleaning, reading the mail, etc. Some of these will be described later in this booklet. They include orientation and mobility training (which includes learning to travel with a white cane and/or dog guide), control of illumination and contrast, and special lenses. As technology advances, these assistive devices are becoming increasingly more sophisticated and helpful to people with RP. Your state department of vocational rehabilitation or commission for the visually impaired offers training programs to assist in adapting to such situations as traveling, housekeeping, employment, and education. Check your telephone directory under state government for these listings.


A great source of information is a Foundation Affiliate or support group where others who have had similar experiences share how they have negotiated those situations.


Is there a treatment for RP? Is there any way to keep it from getting worse?

While researchers are gaining new understandings about the precise genetic causes of RP and the actual mechanisms of the disease, so far research has not found a way to halt the degeneration of the retina or to restore lost vision. However, research is continuing in several different areas that offer hope for people with RP.


Among the most exciting recent findings were the results of a six year clinical study reported in June 1993 concerning vitamin A palmitate and RP. Researchers wanted to determine if increasing the amount of vitamin A palmitate in the diet could slow the progression of retinal degeneration.


Patients with a daily consumption of about 18,000 International Units (IU) of vitamin A (15,000 IU of vitamin A palmitate in dietary supplements and about 3,000 from their regular diet) were found to have a slower progression of retinal degeneration, as measured by ERG, than patients not taking these doses of vitamin A. Taking vitamin A palmitate did not completely stop retinal degeneration, but the researchers found a 20 percent slower average annual decline of remaining retinal function in people taking the supplement. They concluded that the slowing could mean additional years of useful vision for many people with RP. For example, a person starting the daily supplement at age 32 could expect to retain some useful vision until the age of 70, while a person not taking the supplement would lose useful vision by age 63.


However, there are some warnings that accompany this recommendation. There is no evidence that doses higher than 15,000 lUs provide greater benefits, and doses over 25,000 lUs daily may be toxic and cause side effects such as liver disease. While there are no reported instances of toxicity in healthy adults taking 15,000 IU of vitamin A palmitate daily, people taking the supplement are advised to have a test of their liver function and have their blood levels of vitamin A measured before they begin the regimen, and annual tests thereafter. Also, because of the potential for birth defects, women who are pregnant or planning to become pregnant are not advised to take vitamin A palmitate in this dosage. And this recommendation is for adults; RP patients under the age of 18 were not evaluated and 15,000 IU of supplementary vitamin A palmitate is not recommended for children. Parents of children with RP should consult with their eye care professional and pediatrician about therapeutic doses of vitamin A palmitate for children, based on age and body size.


It is important to keep these findings in perspective. Vitamin A palmitate will not cure RP. Vitamin A palmitate will not improve your vision. The degenerative process will continue, but possibly at a slower rate. People with very advanced RP were not included in this study, and if you have advanced RP you should consult with your eye care professional about the possible benefit of vitamin A palmitate for you.


The same study that found these encouraging results from taking vitamin A palmitate supplements also looked at the effect of vitamin E supplements on retinal degeneration. In the case of vitamin E, the opposite effect was found. People taking 400 IU daily of vitamin E were found to have a faster rate of retinal degeneration than those in the other groups. This led to the recommendation that people with RP should avoid highdose vitamin E supplements. However, there is no evidence that normal dietary or small supplemental amounts of vitamin E have an adverse effect on the progression of RP.


It is important that people with RP fully understand the implications of the findings regarding vitamin A and retinal degeneration. For a fuller discussion than is possible to include in this booklet (including a source list for this nonprescription supplement in the palmitate form as recommended in the study), contact The Foundation for a brochure, "Vitamin A Treatment for Retinitis Pigmentosa'.


Can an eye transplant be performed to cure a person with RP?

No. Medical technology is not yet advanced enough to transplant the entire eye. It is simply impossible to reconnect the nerves leading from the eye to the brain. What you may have heard referred to as an "eye transplant" is probably the process of corneal transplantation, which is a valuable visionsaving procedure for some people, but unfortunately has no relationship to the problems in the eye caused by RP. However, retinal cell transplantation is a procedure that may have promise for people with RP in the future, although it is still in its early experimental stages. Retinal cell transplantation is further described below.


Are there other areas of research that look promising for potential treatments for RP?

Yes. Through the efforts of The Foundation Fighting Blindness, the number of highly qualified scientists working fulltime on RP and related diseases continues to grow. With financial support from The Foundation, clinical specialists and laboratory scientists at more than 40 medical and research institutions in the U.S. and around the world are working on research projects related to retinal degenerations. Other projects are supported by government funds.


The Foundation Fighting Blindness began in 1971 as a small organization with modest funding but an ambitious mission: to unravel the mysteries of retinitis pigmentosa and related retinal degenerations and to find treatments and cures for retinal degenerative diseases. Through its research programs, The Foundation has made significant progress. There is exciting work going on in the following areas:


Retinal Cell Transplantation


Over a decade ago, The Foundation launched a grant program to support retinal cell transplantation research. Scientists hope to restore sight or prevent further vision loss by transplanting healthy retinal cells. Retinal transplantation has shown some promise in animal models. As a result, researchers have begun testing the safety of this experimental therapy in humans. While promising, retinal cell transplants must first be proven safe and effective in clinical trials before they can be made available as a therapy for patients. Currently, the progress of transplant research is rapidly evolving. To keep the patient community informed of advances, The Foundation reports on the progress of transplant research in its newsletter and Internet home page.


Gene Therapy


As researchers identify more of the mutant genes that contribute to RP, curing the defect via gene therapy is coming closer to reality. Gene therapy is based on simple logic: If a gene is defective, replace it with one that is not defective. While this may sound simple, the actual procedure of gene therapy is very complex.


There are a number of reasons why RP is a disease particularly suited to the use of gene therapy. First and foremost, some of the defective genes have been identified. Also, there are a number of applicable animal models in which gene therapy can be tested for effectiveness and safety. And the results of gene therapy can be tested in a way that is reliable and noninvasivevisual examination of the retina. Finally, a treated eye can be compared to an untreated eye in the same patient, giving researchers the ideal conditions for conducting a controlled scientific experiment.


While all of the above factors make gene therapy a promising future approach for treating RP, there are still many obstacles remaining. One key question is how to actually introduce the healthy gene into diseased cells. In laboratory experiments, researchers have found that a neutralized virus can transport a healthy gene to degenerating photoreceptor cells. This viral delivery method must be made safe and effective before gene therapy can be tested in humans.


Drugs To Treat RP


With the exception of vitamin A palmitate, there are currently no drugs available to actually treat people with RP. But work by scientists around the country is beginning to lay the foundation for the development of pharmaceutical agents that one day might alleviate or prevent the symptoms of RP.


Researchers are becoming increasingly interested in the work of a group of molecules called "growth factors." The cells of our bodies work together in amazingly intricate and interactive ways to keep us alive, growing, and healthy. Growth factors are small proteins that sustain cells or cause cells to multiply. When healthy cells are injured, growth factors go to work to repair cellular injury and prevent cell death.


If growth factors could somehow be introduced to a diseased retina, they might prevent or delay the degeneration of photoreceptor cells. In work pioneered by The Foundation Fighting Blindness, scientists have demonstrated that several different growth factors can keep injured and dying photoreceptor cells alive in rats. They have even found that injecting the factor into the eye of a rat with an inherited retinal degeneration can delay the onset of the disease.


There is a long way to go to determine important information about growth factors and other drugs regarding potential toxicity and appropriate dosages. But the interest in growth factors continues, and increasing support for this work from The Foundation Fighting Blindness as well as drug companies and the federal government, is helping to accelerate the pace of research into what could be a future treatment for retinal degenerations.


What about reports publicizing interventions that supposedly "cure" RP?

Over the years, practitioners have offered various unproven therapies for the treatment of blindness. Practitioners of unproven therapies are often well intentioned people who want to help patients. However, without prior testing in carefully controlled clinical trials, patients may be exposing themselves to treatments that could actually accelerate vision loss or cause harmful side effects. For example, the same clinical trial which found that vitamin A palmitate slowed the progression of RP also found that daily doses of 400 Us of vitamin E accelerated vision loss. Prior to this study, vitamin E was believed by some to have a beneficial effect on RP.


For a number of years, doctors in Cuba have offered a surgical intervention for RP that they claim halts further vision loss and in some cases restores sight. However, the doctors in Cuba have never provided any study data to support their claims of efficacy and safety. German and Norwegian ophthalmologists have reported serious complications from this surgery such as double vision from restricted eye movement, extreme sensitivity to light and accelerated vision loss. Because the Cuban doctors have never submitted any findings, the number of patients who have experienced similar outcomes is unknown.


To determine whether this intervention had any therapeutic benefit, The Foundation funded a followup study of patients who had traveled to Cuba of their own free will to receive the Cuban intervention. The study found that the treatment did not halt progression of the disease and may have actually accelerated vision loss. The negative results of this study are in agreement with two other studies that also failed to find any benefit for the Cuban intervention for RP.


The evidence that vitamin E and the Cuban intervention actually have a deleterious effect on vision in patient with RP highlights the concern that undergoing an untested treatment may cause harm rather than good. For this reason, The Foundation cannot recommend any untested therapy.


With so little available in the way of actual medical treatment, what other ways can people with RP enhance the quality of their lives?

" I started to limit my daily activities because of the amount of vision I had lost. I planned my days to make things easier for me without revealing my vision loss. After a while, this way of living became exhausting, according to Jacque Olsen of The Foundation's Arizona Affiliate. "I decided that I should do something to learn how to get around independently at work and in my community. Today, after four years of successful and wide ranging travel with a white cane, I feel liberated. My job requires fairly extensive travel and I've negotiated many airports and train statio s throughout 'the United States. My white cane gives me the opportunity to educate the public about RP, and cane travel, as many are curious about what I am carrying."


The white cane is a symbol to the world of visual impairment. For many, like Jacque Olsen, that message to the world is almost as important as the actual help in navigation that the cane provides. But the importance of navigational assistance should not be minimized either; many people with RP speak of the freedom that the cane or dog guide affords them to walk around and get from place to place.


There are many devices and techniques which help people with RP maximize the use of their remaining vision. While a cane does not have an actual effect on your eyes, it may help you cope with vision loss. A dog guide is a living, breathing mobility aid that gives people additional benefits such as companionship. Other nonoptical aids include flashlights, check writing guides, large print books, cassette tapes and braille materials.


There are also electronic aids. These include closedcircuit televisions (CCTV), reading machines, and talking computers. An increasing number of computer programs address the needs of the visually impaired, making it possible to enlarge type on the screen or provide an audio or braille version of what is shown on the screen.


Optical aids are devices which work to improve your vision to some extent. These include eyeglasses, prisms, telescopes, and night vision aids. With advancing technology, some of these devices are becoming increasing sophisticated, and offering new opportunities for people with RP to maximize their usable vision. Night vision aids (NVA) amplify the available light in the environment. They can be quite useful, although they restrict the field of vision, which can be a problem for someone who is starting out with a limited field. Because of this, NVAs do not provide enough useable vision for a person with RP to drive or operate machinery, but they can be a useful way for people to scan their surroundings and get their bearings.


The price of NVAs is coming down as a growing number of manufacturers are beginning to compete for an expanding market which includes night sailors and bird watchers, as well as law enforcers, the military, and the visually impaired. The cost may be covered by health insurance or your state department of rehabilitation. For a list of known distributors of night vision technology, please contact The Foundation.


Are there devices or programs that can provide people with RP access to leisure activities?

There are many, with the possibilities growing all the time. Audio description is available for many videos and theater productions, providing a non-intrusive description of scenery, costumes, facial expressions, and other fine points that a visually impaired person may not detect. Books on tape and in braille, available from the Library of Congress and many other sources, make literature easily accessible to people with visual impairments. Large-type books fill the needs of some people with less severe visual impairment. Other tools for leisure activities include large-print playing cards, big number bingo cards, and self-threading needles and magnifiers for sewing and needlework. A radio reading service typically broadcasts to a special receiver that you can request. It usually features volunteers reading the newspaper every day, as well as many popular magazines. There are many associations around the country for visually impaired athletes who want to ski, bowl, golf, hike, ride tandem bicycles, or participate in many other physical activities.


What assistance is available to help me and my family emotionally cope with RP?

Because RP is a genetic condition that is likely to directly or indirectly affect more than one member of a family, it is important that families know that there are resources available to help them cope with the life changing situations the disease may bring. Families with RP may find it helpful to discuss their questions and concerns with other people who have similar experiences. You may also wish to speak with a mental health professional to help you and your family in dealing with the many changes that can be related to RP.


Local Affiliates of The Foundation Fighting Blindness can be an extremely valuable resource for people with RP and related retinal degenerations. Affiliates provide an excellent opportunity for people to become involved, to network with others like themselves, and to learn the latest breaking news about their condition. Foundation Affiliates are responsible, on a local level, for increasing public awareness about retinal degenerative diseases, and raising funds to support research. People involved with Foundation Affiliates often have a personal interest in these conditions, and regularly share information and ideas at Affiliate meetings and events.


What and when should I tell my child who has been diagnosed with RP about their condition?

Becky Andrews of The Foundation's Utah Affiliate shares her story: "I didn't know I had RP until I was 18. The doctors knew prior to that, but didn't share that information with my parents until that time. Before that I didn't know what the problem was. When friends asked why I walked right past them, I assumed that I wasn't paying attention, when actually I didn't see them. Knowing that there was a reason for this happening or bumping into things helped me to feel more normal. I had a reason and could put a name on what was wrong and explain why things happened."


"We told our son he had RP when he was 13 years old and gave him the basic facts about RP," remembers Judi Parker of The Foundation's Atlanta Affiliate. "As he has gotten older, we have shared more information, so that now he has about as much information as we do regarding RP. From conversations I've had with other parents, I think that telling their children they have RP is much tougher on parents than on the children. Adults have more understanding of the future implications of a diagnosis and understandably struggle with why this happened to their child. Children typically accept it they have an explanation for what is happening and move on. Probably the most important thing when talking to your child is knowing your child and the amount of information he or she can handle. )


There are no hard and fast rules for when and what to explain to a child with RP. A child's need for information varies, depending on age and maturity. Although children are often very perceptive and quick to sense that they have a visual problem, they may be able to absorb only a little information at a time about it. It is usually best to answer their questions as frankly and positively as possible, without offering more information than your child has requested at that time.


It is important to emphasize positive things to children: that they will probably retain some usable vision for many years; that scientists are working hard to understand and find treatments for RP; that there are many assistive devices available to help them manage life with vision loss. Help your child to understand that while visual impairments may impose some limitations, driving a car is one example, the condition should not be used as an excuse for not setting and reaching reasonable goals.


You can reassure your child about two common concerns. RP will not change the appearance of one's face or eyes, and most children with RP can complete their education in their local school system.


Is RP associated with other diseases?

RP is sometimes associated with syndromes that also affect other parts of the body. Usher syndrome causes hearing loss and vision loss from RP. Although Bardet-Biedl syndrome can involve many part of the body, the defining features of this syndrome are extra fingers and/or toes (which are present at birth) and obesity. Other diseases have a retinal degeneration that is similar to RP. RP is thought to be a part of Leber congenital amaurosis (LCA) Patients with LCA are born with very little vision. In some cases, LCA is associated with central nervous system complications such as developmental delay, epilepsy and motor skill impairment. Choroideremia is a retinal degenerative disease that causes the choroid and the retina to degenerate. Information about these diseases and syndromes is available from The Foundation.


What is a Foundation Research Center and what does it study?

The Foundation Fighting Blindness supports extensive multidisciplinary research programs at a number of major medical centers in the United States and Europe in an effort to find causes, prevention, and possible treatment for retinal degenerative diseases, including RP, Usher syndrome, and macular degeneration. Researchers studying one retinal degenerative disease may contribute to the understanding of others so that, for example, research related to RP may also benefit those with macular degeneration. Information from research projects is shared with others in the field in order to advance the goal of understanding all forms of retinal degeneration.


Most of these Foundation Research Centers also provide clinical evaluations and special testing. A list of Foundation Research Centers is included in the Research Update booklet. It is recommended that you contact the Center most convenient to you, if possible, for a personal evaluation. Even with an evaluation at a Center, it is important that you remain in the care of your own eye doctor for continuing general eye care.


How can I find a doctor who is familiar with retinal degenerations?

The Foundation Fighting Blindness has developed a list of retinal specialists to help individuals who do not live close enough to a Research Center for treatment to be convenient. All of the eye care professionals on this referral list have indicated their interest in treating people with inherited retinal degenerative diseases. For a copy of the list for your home state, contact The Foundation.


You should be aware, however, that The Foundation has not screened those listed to judge their training, experience, or standing in the medical community, and cannot recommend one eye doctor in preference to another. Also, The Foundation cannot be responsible for any services given by referral specialists, or for the fees charged.


In addition to using The Foundation's list of physicians, you may wish to consult with your eye care professional or family doctor for his or her recommendation. You may also find it helpful to consult with your state department of rehabilitation, local medical society, university medical school, or major hospital ophthalmology clinic for a referral.


How can I volunteer to participate in Foundation research projects?

The Foundation Fighting Blindness maintains a computerized National Registry to identify and collect medical and family histories of people in the U.S. with retinal degenerative diseases. Participants who complete a Registry questionnaire may also give permission to The Foundation to release their names to researchers for Foundationapproved studies. Many of the patients who will participate in future clinical studies will be identified in this way. A Registry form is included with this packet. In addition, patients seen regularly at a Research Center may be included in certain clinical studies at that Center.


Can I donate my eyes to The Foundation for research?

The Foundation coordinates a national Retina Donor Program to meet the increasing need of researchers to study human retinal tissue. Valuable retinal tissue is obtained after death from persons affected by retinal degenerations or members of their families.


By participating in the Retina Donor Program, you can make a personal investment in the search for answers about RP. The Retina Donor Program has already greatly aided research efforts. This precious anatomical gift involves no cost to the donor's family or estate. Contact The Foundation for additional information, or complete the form that is in The Gift of Sight brochure included with this packet to register as a retina donor.


How can I get involved locally?

"Volunteering has helped me in many ways," says Page Trammell, of the Maryland Affiliate and National Office volunteer, "By volunteering with my local Affiliate, I have made wonderful caring friends who help me to cope and keep me from reinventing the wheel with each new challenge I face. By volunteering at The Foundation's national office, I get a bird's eye view of the tremendous amount of work that goes into creating a successful fundraising event. I have also found that my volunteer work has gotten me back into the mainstream and is helping me to learn new skills, such as using public transportation, that lets me continue an active and independent lifestyle."


While The Foundation spearheads research efforts, there are local Affiliates that can provide personal interaction for you. They exist for anyone who is touched by a retinal degenerative disease, and are a valuable resource to enhance your quality of life.


The Foundation Fighting Blindness
can be contacted by:
Internet:
http://www.blindness.org

Mail:
Foundation Fighting Blindness
Executive Plaza, Suite 800
11350 McCormick Road
Hunt Valley, MD 21031-1014

Telephone:
(800) 683-5555
(800) 683-5551 TDD

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