WHAT ARE THE SYMPTOMS OF RP?
One of the earliest symptoms of RP is "night blindness" where there is difficulty seeing at night and in dimly lit places. This is accompanied by a progressive loss of peripheral vision (side, upper and lower), leading to "tunnel vision". Frequently, in time, central vision also deteriorates.
WHAT CAUSES RP?
The death of photoreceptor cells in the retina is responsible for the symptoms of RP. A defective gene that fails to have the essential balance of proteins produced to keep photoreceptor cells healthy causes this. Over 100 gene defects have been recognised and so far research scientists have isolated over 30 defective genes causing forms of RP.
IS THERE ANY TREATMENT?
There is no medical treatment to date...but world-wide research and studies are growing strong with positive results. In the foreseeable future, gene therapy may make it possible to substitute a healthy gene for a defective one.
IS ONLY VISION AFFECTED?
Yes, in most cases. However, syndromes combining RP and one or more other problems affect a minority. One example is Usher's Syndrome, in which deafness accompanies RP.
MEAN A PERSON HAS RP?
No, in some cases night blindness does not represent any significant eye disease.
HOW QUICKLY WILL I LOSE MY SIGHT?
Progression of RP can vary from person to person. It is important then to be evaluated by a specialist eye physician. For some, the loss of sight is slow and there may be only a small loss over perhaps ten years or more. Others have periods of rapid loss, often with years in between with no apparent decline. Some will have poor vision since childhood or teens; for instance, they probably experienced difficulty with ball games or getting about at dusk. Classically the outer fringes of vision are affected initially, causing apparent clumsiness and an inability to see at dusk. In other cases the central vision may be affected first, causing difficulty in detailed work such as reading and identifying colours.
LIVING WITH RETINITIS PIGMENTOSA?
The first and hardest step towards living positively with a disability is accepting it. Accepting that you have RP will not be easy. You may go though periods of despair and of feeling resentful, bewildered or even angry. Adjustments are made and coping mechanisms help to live with the condition. Learning to adapt and having a positive attitude governs the type of life you and your family will share from day to day. Never write yourself off, with effort you will not miss out on many of life's enriching experiences. Anything that you can do now you will be able to do with a more severe vision loss with training.
Help with coping mechanisms is available through your local Retina Australia branch or Guide Dog Associations around Australia.
HOW CAN I HELP A FRIEND OR FAMILY MEMBER?
Try not to be overprotective, either as a parent or a spouse but observe what he or she can do without help. Listen to any suggestions such as how to arrange the house, keeping the floor clear of objects, not moving the furniture around too often, shutting cupboard doors and never leaving doors half open. When out, try to give warning of unexpected hazards such as steps, sloping pathways, uneven surfaces and doorways.
If you are the one with RP, attempt to explain how much you can do without assistance. Ask for help when it is needed; explain the type of help needed. Directional help is often useful i.e. 2 steps to the right and a step forwards. Learn how to be a 'sighted guide' correctly. The family that is always tense and over protective can be morale destroying. Sighted members of the family may need constant reminders not to leave things in your path, with time they will come to understand the degree of vision loss that you have.
Adjustments need to be made at varying times. Both the person affected by RP and the family need to patiently understand the adjustments necessary. Living with a disability can be hard for the other members of the family too. The affected person can do much towards making life happier by explaining to those around how they can best be helpful.
Remember that RP is a progressive disorder and that, consequently, the needs of a person with RP will change from time to time. It is often difficult for members of the family to understand that something, which was helpful five years ago, may be of little use today.
WHY SHOULD I CONTINUE
TO SEE MY OPHTHALMOLOGIST?
When the diagnosis of retinitis pigmentosa is made, ophthalmologists often tell patients that there is nothing that can be done to cure the disease. While this is true at our present state of knowledge, there are many other factors, which need to be considered to ensure the optimum use of remaining vision.
Visits to the ophthalmologist may therefore continue to be important for the following reasons:
• Obtaining a second opinion
• Monitor the progression of the disease
• Referral for blind pension when sight deteriorates further
• Assessment of other family members and referral to a geneticist
• Referral to local support agencies such as Retina Australia
• Referral for mobility instruction from Guide Dogs
• Prescription of glasses to help improve residual vision
• Diagnosis and removal (when necessary) of cataracts
• Diagnosis of other eye conditions, which may make vision worse, such as glaucoma and diabetes.
HOW CAN I PROTECT MY EYES?
The eyes need to be protected from Ultra Violet, Blue Light and glare. This can best be achieved by using 'blue block filters and UV protection. Your Optometrist should be able to help by accessing a product call 'Blue Guard' which is available in Australia from Sola based in Adelaide.
IS THERE ANY PENSION REBATES?
The Disabled Persons Pension (Blind) is available to all who are legally blind through Centrelink.
(See Legal Blindness, below). The Blind Pension is not means tested.
When should I stop driving?
One of the most contentious issues for someone losing their sight is the loss of their driving license.
Many people find this one of the most difficult issues to face as it has major implications to independence, spontaneity, convenience and simple ease of access to many places and activities.
Obviously this is a very personal decision, hopefully, made with one's own, and public safety in mind. Some drive until their license expires, others make a choice not to drive on the advice of their doctor or experiences on the road as their sight is deteriorating.
Good vision is essential when driving a car. A person with sight loss will take longer to see a potentially dangerous situation and may react too late to avoid a crash.
Most people with RP are unable to drive at night. Some are still able to drive during the day. Unfortunately, there may come a time when you have further loss of sight and it is very important to be aware this may reduce your driving ability and your safety.
The law states that the legal requirement for driving is vision of 120 degrees across the midline for Retinitis Pigmentosa, Retinoschisis and Choroideremia. 6/12 in the better eye for Cone cell degeneration, Stargardt and Best Disease and Retinoschisis.
When one is legally blind it is illegal to drive. There is also a duty of disclosure concerning insurance.
Legal blindness is when vision is:
1. Less than 6/60 in the good eye (With glasses) or
2. A field of vision constricted to 10 degrees or less.
The term legal blindness is very frightening but most people who are legally blind still have a lot
of useful vision.
If you are told by your Ophthalmologist that you are legally blind you are eligible for the Blind Pension which is means test free. Taxi concession cards and rail and bus passes are also available.
(Check with your state)
There are a few states that have driving assessment centres where disabled people can be assessed for road performance and one can be recommended to drive beyond the legal requirement. These centres provide on road assessment and training with the aim of achieving top driving skills. The assessment may include remedial strategies or modifications to the vehicle.
(Approach your state Retina Australia branch for details).
WILL I BE ABLE TO CONTINUE TO READ,
WATCH TV AND PERFORM OTHER VISUALLY DETAILED TASKS?
Some people with RP retain good central vision throughout their lives. Others have more blurred central vision. Some are unable to distinguish colour and a few become effectively totally blind. Loss of central vision seems to be varied and not predictable.
WHAT ABOUT MY CAREER?
People with retinal disorders continue to lead very productive lives. There are examples of successful careers in management, sales, education, social work, architecture, banking, law, catering, computing, farming and many others. After coming to terms with the problem and finding the right assistance, difficulties can be overcome and great things achieved.
DIET AND EXERCISE?
Many have asked the question on diet and exercise...It has been recommended that exercise and a diet rich in antioxidants may be of some benefit. Through research it has now been proven that irreversible damages to the retina are caused from smoking.
To the layperson, blindness indicates a complete loss of sight. The legal definition of blindness,
however, has two components.
Firstly, normal vision is tested in two main ways. The visual acuity defines the ability to read and detect objects at a distance. It is measured using the vision chart, which everyone is familiar with. The chart has lines of letters in different sizes. The person is then asked to read the letters from top to bottom. The top line has a very large letter, which a normal person would be able to see at 60 metres. However a person with a severe vision disability may only be able to see this at 6 metres. Similarly, for the subsequent lines, a normal person would be able to see the letters at 36, 24, 18, 12, 9 and 6 metres respectively. Normal vision means that a person can read the "6 metre" line (usually the second bottom line) at the correct distance from the chart. This means this person sees at 6 metres what other people with normal vision would see at 6 metres (6/6 vision). This used to be called and is the same as 20/20 vision (6 metres or 20 feet). People with less than normal vision would have their vision described as 6/12 or 6/24 etc. depending on which line they could see on the chart.
Thus, legally blind individuals are those whose visual acuity or sharpness (with glasses, if needed) is 6/60 or worse in the better eye. This means that the legally blind person can see an object at a 6 metre distance, as compared with the normal sighted person who could see the same object at 60 metres. This means that she/he can only read the top line on a vision chart.
Secondly, when people look straight ahead, they can normally detect objects to either side, or above or below the direction in which they are looking. This measurement is called the visual field. In normal sighted people, this is measured as 170 degrees. A person is "legally blind" if the combined visual field for both eyes is less than 10 degrees.
The following examples explain effects of limited visual fields. If a typical two-lane road is 12 metres wide, a person with 10 degrees of vision can see from one side of the road to the other only by looking 20 metres down the road (without scanning from side to side). By comparison a person with 140 degrees of vision can see from one side of the road to the other at only 10.5 metres.
When the person with 10 degrees vision travels at 60kph, a period of 4 seconds lapses between seeing something at a point on the side of the road and actually passing that point. This means that, after a side street has been seen to be clear 70 metres down the road, there will be 4 seconds during which something can come out of the side street without being seen.
When looking at the floor from a height of 1.5 metres, a person with 10 degrees of vision can see within a circle 26 cm across, whereas a person with 140 degrees of vision can see within a circle about 2 metres across. This makes a big difference when looking for an object on the floor!
Thus, a person who is "legally blind" may have a visual acuity of 6/60 or less, or a visual field of less than 10 degrees, or both.
RP affects mainly the visual fields, while Stargardt disease and Macular Degeneration (MD) affect
mainly visual acuity. Although some people with RP and MD develop a complete loss of all sight, most retain at least limited vision. Depending on the degree of this limitation, the person may have legal blindness. A "legally blind" person is entitled to Disability Support Pension (Blind) from the Commonwealth Government.
The light we normally see is called "white light". This is made up of several different colours, which are only seen when they go through a transparent object, which shows these colours. The best everyday example of this is the rainbow when white light passes through rain and shows up as the colours of the rainbow - red, orange, yellow, green, blue, indigo and violet. Colour is mainly caused by the blue part of the white light. To protect eyes from sun and glare, it is important to wear sunglasses, which absorb this blue light. It is important to seek professional advice from an optometrist or ophthalmologist. Many of the blindness agencies also have a range of glasses, which are effective.
A person with a degenerative disease of the retina experiences progressive vision loss and that loss of visual function necessarily changes the individual's relationship to the physical environment in which he or she lives.
The vision-impaired person will treasure and want to maximise independence of movement and action. Some aspects of the physical environment are so intimately familiar as to be easily and safely negotiated on an independent basis. This will be particularly the case within the home environment where levels and dimensions are well known and where lighting conditions can be manipulated.
However, once out of the predictably familiar everyday physical environment the vagaries of level, distance, lighting and all the movement of human activity impinge on the vision impaired person's independence and safety of movement. It will be in this context that the affected person may appreciate sighted guidance.
However, for this to be successful it is essential that both the parties are completely comfortable with the way of doing things. To become a proficient sighted guide entails both learning what guiding techniques generally work best and practice. As long as you stick to mutually understood basic rules you will find that with practice it can become second nature, though to begin with it will usually pay to practise in relatively quiet surroundings. The following has been adapted from "How to Guide a Blind Person", published by RNIB in London in 1987 and in very wide use in Australia as well as worldwide.
The starting point is to ask the vision impaired person whether any assistance is wanted. If it is, you will need to start looking ahead for any obstacles or difficulties. Stand slightly in front with your arm at your side. The person being guided holds the arm above the elbow in a C-grip, so that you can retain free use of your lower arm and hand. This will ensure that the person being guided will be half a step behind you and slightly to the side. You need to walk at a pace, which is at all times comfortable for
the vision-impaired person.
Often a narrow space will need to be negotiated. Frequently this will take the form of a doorway, a corridor or a confined space between people or between chairs. First tell the person clearly that a narrow space is ahead. Then move your guiding arm towards the centre of your back to indicate a need to step in behind you and keep a full arm's length behind to avoid tripping on your heels.
As soon as you have passed through the narrow space return your arm to its former position by your side and the person being guided will respond by resuming the original position half a step behind and slightly to the side.
The person being guided needs to be told three things:
1. that a doorway is being approached
2. whether the door opens towards or away from you
3. which side the door is hinged.
Before reaching the doorway, the person being guided should be positioned on the hinges. This may entail changing sides by moving behind you without losing contact. On reaching the door you need to open it, walk through and allow the person to slide a free hand along the door and close it if appropriate.
STEPS AND STAIRS
It is essential to forewarn the person that steps or stairs are ahead and, importantly, whether they go up or down. Approach the steps squarely and stop when you reach the edge of the first step. Explain where the handrail is and allow the person to change sides if desired. Depending on the circumstances, you may need to help guide the person's hand to the rail. The vision impaired person may also like to quickly measure the step by sliding one foot to the edge before moving off.
You should always be one step in front of the person on a flight of stairs. Try to walk at an even pace so that a rhythm develops and balance is maintained. Stop when you reach the bottom of the stairs, at the same time letting the person know that the last step is being negotiated.
Coping with kerbs requires a similar technique to that for other steps. You need to forewarn the person of the approach of a kerb, identifying whether the step is up or down. Pause at the edge of the kerb, then step forward and pause again before proceeding.
On approaching chairs you will need to look and think ahead to decide which of the available chairs to guide the person to. You may ask the individual's preference or you may, for example, already be aware of preference not to sit facing into glaring light.
Having reached the selected chair, simply take the person's hand from your arm and place it on the back of the chair. It will be helpful to also say what way he or she is facing in relation to the chair and if it has arms or any other feature to take into account. No further guidance will generally be needed for seating to be completed.
It is important that you avoid backing a vision impaired person into a seat unless circumstances make it an unavoidable last resort and, even then, opportunity need to be afforded the individual to check out the dimensions of the seat before sitting down.
GETTING INTO A CAR
Leave the car door closed and, if appropriate, indicate which way the car is facing. Place the vision-impaired person's hand on the door handle so that he or she can open it. When the door is opened the person's free hand can find the edge of the car roof to avoid bumping the head or, alternatively, can locate the back of the car seat if that is preferred. Once seated the individual can close the car door.
If for some reason the car door is already open, place the person's hand instead on the top corner of the open car door before proceeding as before.
In describing surroundings you need to aim to be clear, accurate, definite and concise.
Adjust the quantity or information you provide to what the guided person is comfortable with.
The terms left and right and clockface numbers can be helpful as direction guides but for their use to
be effective the sighted person has to be able to view them from the vision impaired person's perspective, which can necessitate a mental reversal when facing one another. As with other aspects, practice (can bring easy facility to) describing surroundings (and) help to make for smooth and relaxed sighted guidance.
Because not all vision impaired people will necessarily use these methods it is most important to ask the individual whether help is wanted and, if so, what type of help would be welcome.
The light we normally see is called "white light". This is made up of several different colours which are only seen when they go through a transparent object which shows these colours. The best everyday example of this is the rainbow when white light passes through rain and shows up as the colours of the rainbow - red, orange, yellow, green, blue, indigo and violet. Colour is mainly caused by the blue part of the white light. To protect eyes from sun and glare, it is important to wear sunglasses which
absorb this blue light.
It is important to seek professional advise from an optometrist or ophthalmologist. Many of the blindness agencies also have a range of glasses which are effective.
GUIDE FOR PARENTS
Research tells us that one in every 3,000 children is born with RP. It is important to recognise that RP can strike in any family with no known history of it. Do not blame yourself or your partner. Many people are unknowingly carriers of RP.
This is naturally an overwhelming experience, some of the things you maybe feeling are shock, anger and frustration which is all a normal process. Thoughts are obvious of your child's future. But behind this screen is a team...and you need not be alone, we will do all we can to get the right advice and support you need.
What to tell your child - Telling a child that he or she has a degenerative eye condition will never be easy. But it is important to be positive at all times and honest. Of course a young child will not understand what is happening, so you need to keep things simple - perhaps by saying, I know your eyes don't work very well, so we might have to do some things a bit different. Do not over load a young child with information. Some things can be more upsetting than others for your child, particularly when they are reminded in a way of how much sight they have lost, e.g. doctors visits, or when your child attempts a familiar activity and has difficulties, also fear of becoming lost or just of losing their sight.
Help your child to come to terms with the problem, and try not to panic or become over-protective.
Do not let children use this problem as an excuse for not fulfilling their full potential. Just remember there is no single "right" response but it is essential to be realistic, hopeful and positive.
Give them the opportunity to become involved in sports or activities in which they can develop confidence. Confidence in their own ability can be restored as they gain skills in the use of low vision aids or technical equipment.
Continue to give responsibilities around the home, even in small amounts they will develop
It is also important to discuss with the child's siblings what is happening with their brother or sister's
vision loss. They may also have fears or concerns which, when addressed, could help them to support
You may wish to obtain a referral to the Genetic Counselling Service in your state to talk the
genetic side through.
Each state has many different services for the vision impaired and blind. Contact your state organization of Retina Australia for further details.
If your child is of preschool or school age it is important to contact the Education Department in your State to ensure the special teaching services for vision impaired children are made available for your child. Meetings with you and the principal to discuss ways in which your child can be helped throughout her/his schooling.
Some of the things a teacher of vision-impaired children may suggest are:
Classroom lighting needs to be very good, and good directional lighting is important for extended periods of study or close work. While the student needs bright light, he or she should be protected from glare, including dusty blackboards, whiteboards or reflective tables. The student will probably be best seated with his or her back towards the windows. Curtains may be useful to improve light conditions at different times of day.
Some people with retinitis pigmentosa will experience difficulties adjusting to different lighting conditions. E.g. moving from bright sun into dimly lit rooms. Adaptation may take between 5 and 40 minutes. Classroom procedures can be altered accordingly.
There are many other situations including contrast chalk on boards, letter sizing, overhead transparencies and other important information that will make your child feel more comfortable.
Many young people with retinitis pigmentosa may want to deny they have any difficulties, and are, in fact, able to continue participating in and out of the classroom in much the same way for many years.
However, contact with other vision impaired young people may be beneficial in addressing some of the feelings relating to loss of vision, and in developing an acceptance of their diagnosis. Also, parents may like to discuss these difficulties with other parents who are facing a similar problem.
YOUNG PEOPLE'S ISSUES
This is an extract from the Retina Australia's 1999 National Congress in Sydney on "Young People's Issues". The participants included a minority of young people in their late teens and twenties, parents of young people, and others who could remember being young not so long ago. The workshop was a very interesting and rewarding one. This was due to the skills of the facilitator Cathy Bettman and the readiness of people to participate but most of all, to the contributions of young people present. Numerous issues were canvassed and this is what follows is an attempt to summarise the main ones.
A common widely felt concern was that ophthalmologists often seem to be ill equipped or otherwise unable to provide the sensitive, helpful counsel to both the affected young person and the family that is needed at the time of diagnosis and immediately following it.
Compounding this is the fact that diagnosis is typically unexpected and traumatic for the affected young person and family so that it can be very hard for them to take in whatever helpful verbal information the ophthalmologist does offer.
There is a felt need for professional post-diagnosis counselling to help affected people cope with assimilating information to assist them to go forward.
It is felt that ophthalmologists should at the very least be the beginning of such a counselling process and should be prepared to actually refer the patient with a newly diagnosed retinal dystrophy to an appropriately qualified counsellor.
It was felt also that the ophthalmologist should be making the newly diagnosed individual/family aware of the existence of the Retina Australia member body in the particular State or Territory as a source of further information and peer support.
It was suggested that the education of ophthalmologists could give more attention to the handling of diagnosis and its aftermath, particularly where inherited degenerative diseases of the retina are concerned.
It is essential for young people and parents to be frank with others regarding the young person's retinal dystrophy. Denial and covering up are not helpful. In fact, people are generally very positive when they are aware and it is only through awareness that teachers and others can have the opportunity to make constructive adjustments to educational and social environments. Where necessary, parents can only require schools to take steps to offset educational disadvantage where there is openness.
Issue: Independence of Movement and Action
A major issue for vision impaired young people is to be able to develop independence of movement so that by the end of their secondary school years they have the ability to move about independent of parental transport. The clear message was that parents can play a positive role by not prolonging dependence and, instead, by actively supporting the progressive development of the independence of movement essential to the individual pursuit of life interests and social interaction.
Issue: Personal Identification
Young people experience discrimination when they have no driver's licence for personal identification purposes. This is keenly felt. The RTA now provides proof of age cards.
Issue: Parental Worry and Guilt
The point was made that it does not help young people for parents to harbour any misplaced feelings of guilt or to worry unproductively about their future.
The key as far as the young people present were concerned was to get on with living. The emphasis for the affected young person and family alike was to preserve hope in life and a positive approach. They put store in having a good sense of humour and being ready to join with friends in having a laugh about aspects of vision impairment where appropriate. Recreational activities for the vision impaired were seen as both valuable in themselves and for making social contacts. Several young people had derived great benefit while at school from special holiday trips organised by some vision impairment agencies and recommended these to parents
It was very interesting to the observer that the level of concern of participating parents was much greater than that shown by the participating young people. Parents were understandably concerned for the future of their children, whereas the focus of the young people was on getting on with leading fulfilling lives. However, the young people felt strongly about those issues which have most impacted on them in childhood, youth and the present.
The major theme that stood out was that parents could best help by fostering the progressive development of autonomy and independence, while continuing to be positively supportive.
As we left the workshop grateful for the insights the young people had shared with us, we could not help feeling impressed and heartened by their contributions.