EnVision A publication for parents and educators of children with impaired vision Fall 2004 Volume 9 Number 1 Understanding Progressive Vision Loss Mary Ann Lang, PhD Children and young adults are continually changing and adapting to new environments as they mature. In addition to dealing with the usual ups and downs of growing up, young people with progressive eye disorders, such as retinitis pigmentosa, face an even more taxing set of challenges. These individuals, their parents and their support system must not only chart the course of progressive vision loss but also understand the effects this vision loss will have on them physically, mentally and socially. This issue of EnVision provides an array of information on progressive vision loss from the highly technical to the practical and personal. This diverse accumulation of material gives a comprehensive look at progressive vision loss with a focus on two progressive eye disorders: retinitis pigmentosa and diabetic retinopathy. First, two authors address retinitis pigmentosa, whose symptoms are most often recognized in children, adolescents and young adults, with progression of the disease continuing throughout an individual's life. Dr. Robert Koenekoop introduces new information about causes and treatments for the disorder while Dr. K. Ilango presents an international perspective of retinitis pigmentosa by describing its epidemiology in India. Diabetic retinopathy, a complication of diabetes, is another progressive eye disease that today makes frequent headlines worldwide. Cydney Strand and Rebecca Helmer trace the current surge in type 2 diabetes cases, especially among children, and discuss interventions to prevent an epidemic in the making. Those who have progressive vision loss look for support from clinicians, educators and family. From a clinical viewpoint, Dr. Mark Wilkinson highlights the benefits of early introduction to low vision services while, from an educational standpoint, Dr. Kathy Boisvert considers the importance of offering Braille instruction to children with low vision. And rounding out EnVision's coverage of progressive disorders and vision loss, Angela Winfield presents her personal perspective of dealing with progressive vision loss as a high school and college student. In This Issue Retinitis Pigmentosa: New Ideas about Causes and Treatments Low Vision Perspective of Retinitis Pigmentosa in India Type 2 Diabetes - An Epidemic in the Making The Benefits of Early Introduction to Low Vision Rehabilitation Services Current Issues in Education and their Impact on Teaching Braille to a Child with Low Vision Working Through Change: A Young Person's Experience New Children's Vision Channel on VisionConnection,SM a guide for parents and professionals on children's vision ... see page 11 Retinitis Pigmentosa: New Ideas about Causes and Treatments Robert K. Koenekoop, MD, PhD Retinitis pigmentosa (RP) is the most common form of a large and heterogeneous group of retinal degenerations and affects approximately one in 3500 people around the world. Patients with RP lose vision because rods and cones die throughout the retina. If the rods and cones are lost in the first year of life, or if they are non-functional or dead at birth, the diagnosis becomes leber congenital amaurosis (LCA), which is the congenital form of RP. In a typical case of RP with a later onset, the rod photoreceptor is affected first, which gives rise to a characteristic set of clinical symptoms and signs. These clinical symptoms include night-blindness at an early age and bilateral loss of mid-peripheral visual field. Initially, there is relatively good preservation of central vision, but with time the visual field loss progresses both centrally and peripherally. With progression, cone photoreceptors become affected. When this occurs centrally, color and day vision become compromised, eventually leading to complete blindness in some cases. The final common pathway of photoreceptor cell death is by apoptosis, which is a genetically programmed disintegration of cells. Clinical Signs of RP Clinical signs of RP include a pigmentary retinopathy, caused by the release of pigment from the degenerating retinal pigment epithelial (RPE) cells. These pigment granules accumulate in a perivascular fashion and are commonly referred to as "bone spicule deposits." Variability in the pigment deposition can lead to hypopigmention of the retina, translucence, window-like defects and round pigment deposits. With atrophy of the retina, the retinal vasculature becomes attenuated and the optic nerve head becomes pale as a result of reduction of blood flow to the retina. The age of onset of RP can vary from birth (LCA) to infancy (juvenile RP) and early adulthood (adult onset RP). Onset and progression rate depend in part on the inheritance mechanism. RP can be inherited in autosomal dominant (AD), autosomal recessive (AR) and x-linked recessive (XR) fashion and onset is earliest in XR, later in AR, and even later in the AD cases, although considerable overlap occurs. Substantial progress has been made in the past 10 years in determining the genetic basis of monogenic eye disorders such as RP and LCA. Mutations in new genes that are responsible for RP and LCA are being identified on a regular basis. For RP, 32 genetic loci, and for LCA, 8 genetic loci have been determined, and, of these, 23 and 6 genes respectively have been identified and characterized. Human vision takes place in two types of retinal photoreceptors, rods and cones, which are named for the shape of their respective specialized light-sensing organelles, the outer segments (OS)(Fig 1). (photo caption, figure 1) Fig 1. Outer segment of the rod and cone photoreceptors. (Sidebar) Retinitis Pigmentosa Inheritance Patterns Retinitis pigmentosa can be passed to succeeding generations by one of three genetic inheritance patterns. Each type of inheritance causes a different pattern of affected and unaffected family members. 1. Autosomal dominant A single, abnormal gene on one of the autosomal chromosomes (one of the first 22 "non-sex" chromosomes) from either parent can cause certain diseases. One of the parents will usually have the disease (since it is dominant) in this mode of inheritance. Only one parent must have an abnormal gene in order for the child to inherit the disease. 2. Autosomal recessive An abnormal gene on one of the autosomal chromosomes from each parent is required to cause the disease. People with only one abnormal gene in the gene pair are called carriers, but since the gene is recessive they do not exhibit the disease. In other words, the normal gene of the pair can supply the function of the gene so that the abnormal gene is described as acting in a recessive manner. BOTH parents must be carriers in order for a child to have symptoms of the disease; a child who inherits the gene from one parent will be a carrier. 3. X-linked recessive X-linked diseases usually occur in males. Males have only one X chromosome, so a single recessive gene on that X chromosome will cause the disease. Although the Y chromosome is the other half of the XY gene pair in the male, the Y chromosome doesn't contain most of the genes of the X chromosome and therefore doesn't protect the male. While males are only affected with RP in this type of inheritance, females carry the genetic trait but do not experience serious vision loss. Source: National Library of Medicine (NLM) http://www.nlm.nih.gov/medlineplus/ encyclopedia.html (end sidebar) The fingerlike outer segment of rods and cones is a specialized cilium composed of a plasma membrane surrounding a stack of approximately 1000 lipid membranous discs (Fig 2). One of the major and surprising features of photoreceptor biology is the fact that the discs turn over at a rate of about 100 discs per day, presumably to prevent accumulation of light damage (photo caption, figure 2) Fig 2. Outer segment discs, showing the disc lamination and the close proximity of the OS and RPE layer. Disc morphogenesis occurs at the base of each outer segment, near the connecting cilium, which connects the outer to the inner segment of the photoreceptors. Meanwhile disc shedding by a process called phagocytosis takes place at the tip of the outer segments by the underlying layer of retinal pigment cells. Rhodopsin and the three cone opsins, the most abundant OS proteins, are embedded in the disc membranes. When a photon of light reaches an opsin molecule (bound to 11 cis retinal), a molecular cascade is triggered, called the phototransduction cascade (Fig 3 ), which is a molecular chain of events that converts electromagnetic signals from the outside world into neural signals that are ultimately interpreted by the visual cortex. This cascade must be turned off to prepare for another cycle of phototransduction. The 11 cis retinal, which gets transformed to all trans retinal, is transported to the RPE. In the RPE, a series of enzymes in the retinoid cycle ensure the recycling of new molecules of 11 cis retinal. (photo caption, figure 3) Fig 3. Rhodopsin molecule embedded in the disc membrane. Functional Pathways of RP/LCA Genes RP and LCA genes participate in a wide variety of retinal functional pathways. The Phototransduction Cascade The most commonly mutated RP/LCA genes participate in the phototransduction cascade with 15 genes implicated. For example, rhodopsin (Rho) mutations account for 25% of ADRP cases. The mechanism causing rod and cone cell death in RP patients with Rho mutations is not fully understood, but one hypothesis is that some Rho mutations may lead to constitutive activation of the cascade and an inability to turn the rhodopsin molecule off, which would be equivalent to constant light exposure (Fig. 3, page 4). Vitamin A Cycle (Retinoid Cycle) The retinal pigment epithelium counts seven of the gene products involved in RP and/or LCA. An example is RPE65, a specific protein found only in the RPE layer, which plays a crucial role in the regeneration of 11 cis retinal. In the RPE, isomerization of all trans retinal to 11 cis retinal takes place. In the absence of RPE65, isomerization is blocked and all trans retinyl esters accumulate. Transcription Factors Transcription factors account for three of the RP/LCA genes. CRX, also known as the cone-rod homeobox gene, regulates expression of retinal specific genes. CRX is required for formation and maintenance of the outer segments of both rods and cones. RNA Splicing Factors Three genes participate in mRNA splicing and are known as mRNA splicing factors. The process of intron removal or pre-mRNA splicing occurs on a dynamic RNA protein complex called the spliceosome. Mutations cause instability and prevent the splicing process. Structural Genes Nine RP/LCA genes play roles in the structural and cytoskeletal systems of photoreceptors. For example, RDS, also known as peripherin, encodes a photoreceptor rim protein that plays an important role in maintaining the OS disc configuration. A possible mechanism for the photoreceptor cell death may be oxygen toxicity. Therapeutic Strategies for Hereditary Retinal Degenerations Recent therapeutic research in the field of retinal degenerations has prompted the cautious expectation that photoreceptor cell diseases may become treatable in the near future. 1. Retinal Cell Transplants Retinal cell transplantation is done to replace photoreceptor cells and/or RPE cells and restore function. The assumption is that the inner retinal cells are at least partially intact and functioning. It is now possible to transplant healthy embryonic retinal cells to the degenerating retinas of various animal models. Grafts of immature retinal transplants into animal host retinas survive, proliferate, differentiate and are protected by the immune privilege of the eye. Long-term survival of cells is now possible. One of the advantages of retinal cell replacements are that they can be performed relatively late in the disease process, unlike gene and drug replacements which have to be administered while the cells are still alive. Another is that they are non-specific and independent of the gene mutation and will therefore be applicable to a larger number of patients. 2. Gene Replacement Therapy When both copies of the gene (the maternal and paternal copy) are defective, as in recessive RP, it is now possible to contemplate gene replacement strategies. In a spectacular recent study by Acland et al. in 2001, the RPE65 gene was replaced in a Briard dog, which is blind at birth due to a completely absent RPE65 gene. This gene is a key player in the vitamin A cycle and absence of the protein leads to a block in the cycle and an inability to produce proper visual pigment. At birth, the electroretinogram (ERG) function is non-detectable, despite the normal appearance of the retinas, including the photoreceptor layer in this dog model. Subretinal injections in one eye of three dogs containing the AAV virus with cDNA of dog RPE65 were performed at four months of age. Rod mediated and cone mediated ERGs, visual evoked potential, pupillometry and behavioral testing all showed dramatic improvements in visual function at about eight months of age, which were maintained for at least three years (and counting). This is the first study to demonstrate restoration of visual function in a large eyed animal model with RP due to an RPE gene defect. A human clinical trial to test the efficacy and safety in humans is starting in 2005. 3. Pharmacological Intervention Through genetic and biochemical studies, the enzymatic defect of a retinal disease is often discovered. Before future enzyme replacement, gene therapy or cell transplant becomes available, the simple understanding of the consequences of the enzymatic defect and changes in the diet may impact the course of the disease. A good example in our field is gyrate atrophy where the defect is in the enzyme ornithine delta amino tranferase. It results in the accumulation of ornithine, also known as hyper-ornithinemia, which leads to photoreceptor death. The main source of ornithine is arginine and restriction of the latter stabilizes the disease. Neurotrophic factors play an important role in normal nerve cell differentiation and growth. Recent increased knowledge of their functioning in normal and diseased retinas has lead to expectations that they may play a role in future treatments of RP. Acknowledgements The author acknowledges the MRC Canada (now CIHR), FRSQ from Quebec and the Foundation Fighting Blindness of Canada for their financial support. Robert K. Koenekoop, MD, PhD, McGill Ocular Genetics Lab, Montreal Children's Hospital, McGill University Health Centre, Montreal, Canada Low Vision Perspective of Retinitis Pigmentosa in India K. Ilango, MD Overview of RP Retinitis pigmentosa (RP) is a generic name for a group of hereditary disorders characterized by a progressive loss of night vision and visual fields. The manifestations of the disease, whose prevalence is approximately one in every 4,000 individuals, vary among patients and even among family members with the condition. The age of onset, rate of progression and amount of visual loss are related to the mode of inheritance. Night blindness, also referred to as nyctalopia, is usually the first symptom. By the age of 30, over 75% of patients with the disease will experience symptoms of RP. In contrast to cone dystrophy, in which patients display deficient cones in the retina and will experience day blindness, retinitis pigmentosa involves both cone and rod cells in the retina, though only the rods are predominantly affected. Loss of visual acuity may directly involve the fovea, the most sensitive portion of the retina, though about 25% of patients maintain good visual acuity. Such patients are able to read throughout their working life, despite a central two to three degree field because their central visual acuity is preserved with their tubular field. Mobility, however, will be a major concern as their peripheral field is affected. Patients with RP may be prone to other ocular diseases such as glaucoma (characterized by raised intraocular pressure and optic disc changes), cataracts, keratoconus (an abnormal conical shape of the cornea) and myopia. An important tool for early diagnosis is the electroretinalgram (ERG) test, which records the action potential produced by the retina when stimulated by light of adequate intensity. Inheritance Retinitis pigmentosa may occur as an isolated disorder inherited in an autosomal dominant, autosomal recessive or x-linked manner, or it may occur in association with certain systemic disorders. Sporadic cases without any family history are the most common type. Autosomal dominant inheritance is the next most frequent mode and has the best prognosis. X-linked recessive is the least common mode of inheritance and has the worst prognosis. RP in India In one study done in India, a genetic and segregation analysis of retinitis pigmentosa patients showed that: - 9% of cases were autosomal dominant - 36% of cases were autosomal recessive - 3% of cases were x-linked recessive - 44% of cases were isolated instances - 8% of cases were of undeterminded genetic type A high incidence of consanguinity was observed in autosomal recessive and isolated cases (37%). The high proportion of autosomal recessive and isolated cases in this study when compared with other similar studies is due to the high incidence of consanguineous marriages in the Indian subcontinent.1 In another study done in south India, the influence of consanguinity on the prevalence of visual disorders showed that out of the 2,335 patients studied over a period of five years, 673 (28.8%) of these reported a family history of consanguinity. The majority of the sample (n=574) was from south India. The most common form of consanguineous union was between first cousins (n=367), followed by uncle/niece marriage (n=177). 430 among the 673 patients reporting consanguinity (63.9%) had retinitis pigmentosa, of which 167 of the cases were autosomal recessive and 199 were isolated cases.2 Atypical Retinitis Pigmentosa A clinically different variety of the disease is termed atypical retinitis pigmentosa. The patient experiences symptoms similar to typical retinitis pigmentosa, but the clinical picture of the retina is different. Atypical RP is associated with a wide variety of systemic disorders including: - Bardet-Biedl syndrome (characterized by mental disability, polydactyly, obesity, hypogenitalism and renal abnormalities) - Laurence-Moon syndrome (characterized by mental disability, hypogenitalism and spastic paraplegia; less common than Bardet-Biedl syndrome) - Usher syndrome (accounts for about 5% of all cases of profound deafness in children and is responsible for half of all cases of combined deafness and blindness) - Cockayne syndrome (characterized by childhood dwarfism, prematurely aged appearance with birdlike faces and small head, disproportionately large hands and limbs, deafness, photodermatitis and nystagmus) - Kearns-Sayre syndrome (characterized by systemic features which manifest before the age of 20: ocular myopathy, ptosis and heartblock, which may cause sudden death; in some cases, associated with short stature, muscle weakness, delayed puberty) Understanding the various manifestations of retinitis pigmentosa is essential for the professionals involved in the rehabilitation of RP patients. The above descriptions emphasize the importance of a multispecialty approach - including a clinician, audiologist, rehabilitationist, physiotherapist and psychologist - in the management of such patients. Recommendations for the Future In India, patients with night blindness face social stigmatization as very few institutions supporting holistic rehabilitation exist. In addition, divorce among patients with these disorders - once detected - and their spouses are also prevalent. Children with RP are able to manage during their active educational career since central vision is preserved, but, later in life, they suffer due to a constricted vision field impeding their mobility. Increased awareness of the problems caused by consanguineous marriage within the community will reduce the prevalence of RP in India in the future. Additionally, a holistic, multispecialty approach to working with RP patients, plus public acceptance of mobility, vocational and social rehabilitation will help these patients to live independent and full lives. References 1. Retinitis pigmentosa in India, a genetic and segregation analysis. Clinical genetics 1995 Feb; 47(2), 75-9 Kar B Johns, Kumaramanickavel. A 2. Consanguinity and ocular genetic diseases in south India. Analysis of a five year study. G Kumaramanicka vel, B Joseph, A Vidhya, T Arokiyasamy, N Shridhara shetty, community genetics. 2002; 5; 182-185 K. Ilango, MD, Consultant, Vision Rehabilitation Centre, Aravind Eye Hospital, Madurai, India Type 2 Diabetes - An Epidemic in the Making Cydney Strand, RN, and Rebecca Helmer Approximately 40% of people diagnosed with diabetes develop diabetic retinopathy,1 a leading cause of vision impairment among people with advanced or long-term diabetes. Even with current improved treatments and enhanced management strategies, diabetic retinopathy continues to be the main cause of vision loss in adults ages 45 to 65. People with type 2 diabetes account for approximately 90 to 95% of all diagnosed cases of diabetes and, therefore, for most cases of diabetic retinopathy. Each year, approximately 1 million people worldwide are diagnosed with type 2 diabetes, and this number continues to grow.2 According to the International Diabetes Institute, over 230 million people will have type 2 diabetes by the year 2010.3 For people with diabetes, the risk factors for developing diabetic retinopathy include: elevated blood glucose levels, high cholesterol, obesity, inactivity and, most importantly, duration of diabetes. In fact, the single most important risk factor for developing diabetic retinopathy is the length of time a person has diabetes. Children Are at Risk Too This risk factor is particularly menacing as "type 2 diabetes" - a term previously synonymous with "adult onset diabetes" - is now commonly diagnosed in young adults, adolescents and children. Obesity is the most common clinical finding in children with type 2 diabetes. Impaired glucose tolerance, a precursor to type 2 diabetes, is found in overweight children as young as six years of age. As the number of obese children has essentially tripled in the last thirty years, it is not surprising that the number of youngsters diagnosed with type 2 diabetes has also substantially increased.4 Although America's children have the highest incidence of childhood obesity with over 35% of children and adolescents considered to be overweight, the rest of the world is catching up. Approximately 20% of European children between the ages of five and 17 are overweight, and a considerable rise in childhood obesity has been documented in North Africa, the Middle East, Asia and even in the urbanized areas of sub-Saharan Africa. As vision loss due to diabetic retinopathy takes years to develop, it has traditionally been seen in elderly populations. However, with obesity trends causing a rise in type 2 diabetes in children, vision changes related to diabetic retinopathy are now being found in young adults in their twenties. Making matters even worse, a recent study done in Europe found that regardless of the amount of time a person has diabetes, the onset of type 2 diabetes before puberty could be an additional independent risk factor.5 To meet this growing threat, not only must work continue towards better treatments for diabetes and its many macro- and micro-vascular effects, but the growing trends of inactivity and obesity must also be addressed. Twin Enemies: Inactivity and "Junk" Food Lifestyle choices are the greatest determining factor in obesity. Less than 1% of cases of childhood obesity are caused by hormonal imbalances and medical problems.6 One half of children ages 12 to 21 are considered under-active or inactive.7 Rather than participate in after-school sports or activities, children often return to their homes and watch television. It is estimated that in the United States, children between the ages of two and eight watch a minimum of two and a half hours of television per day.8 The amount of television watched often correlates directly with obesity level. Children are even less active when watching television than when they are reading or playing board games. Additionally, food advertisements aimed at child audiences often induce children to consume more junk food than they normally would. The availability of fast food and snack machines in schools and the lack of dietary supervision at home lead to consumption of foods that are high in calories and saturated fat. Inconsistent eating patterns and schedules also lead to unhealthy snacking and the combination of snacking and television leads to even higher food consumption. Parents may worsen the situation by purchasing or cooking unhealthful foods, by allowing children to eat whatever and whenever they choose and by insisting that children eat even when they are not hungry. Unfortunately, most families, physicians and healthcare providers are unprepared to manage childhood obesity: physicians receive limited information about nutrition, health coverage for nutritional services is scarce and families are often unwilling to discuss the sensitive topic of weight loss. Interventions: Life Style Changes Lifestyle changes can begin with adjustments at the family level. Rather than single out an individual child, the whole family can make an effort to eat healthier foods and to exercise more. Counting calories is rarely effective and often leads to a negative preoccupation with food. Instead, positive changes include the pursuance of realistic goals and the creation of an eating schedule that includes both healthy meals and healthy snacks. Children should determine when they feel full and should not be persuaded to have "just one more." Parents or caregivers can also help children keep a food diary and can enlist the help of a physician or nutritionist. In addition to providing healthy food choices and moderate portions, parents can encourage their children to become more active by limiting television viewing and by encouraging involvement in after-school sports programs. Beyond the family environment, school administrators and parents can make changes in schools. Some school districts are taking action by creating innovative physical education programs that encourage students to attain goals appropriate to their personal fitness category. In other districts, parents have pushed to remove candy and soda vending machines and fast food options from elementary and middle school cafeterias. Along with changes at home and at school, community and health agencies are working to change unhealthy lifestyles by addressing issues such as culture, education, health care, transportation and even zoning and community design. These newer efforts to reduce the national level of obesity emphasize fundamental community changes rather than specific dietary and exercise programs. Examples include the creation of sidewalks, pedestrian-friendly zones and walkways to specific destinations such as grocery stores, offices, and school buildings to encourage people to walk rather than drive. Walking programs that distribute pedometers and encourage people to take "10,000 steps a day" are also having success in many communities. In addition, healthcare professionals need to be educated and given the necessary tools to help their patients and their communities with weight and fitness issues. Though research breakthroughs for the complications of diabetes continue, experts agree that the key to addressing this upcoming epidemic is its prevention. Some suggestions for prevention are to implement higher taxes on junk food and to subsidize nutrition, fitness and weight-loss programs to increase motivation for people to make lifestyle changes. The unifying theme in such initiatives is to find creative ways to motivate people to eat healthier foods and lead more active lives for the prevention of the early development of a host of diseases including diabetes. In order to approach this problem effectively, we must make healthy lifestyle choices on a personal level as we work for change on a global level. References 1. National Society to Prevent Blindness (1980). Causes of Vision Impairment. Retrieved August 18, 2004 from http://www.lighthouse.org/ vision_impairment_causes.htm#dia -PBA 2. Haines, Stuart T. (2003). The Diabetes Epidemic: Can We Stop the Spread? Retrieved August 18, 2004, from http://www.medscape.com/viewarticle/462696_print 3. Zimmet, Paul. (2000). The Global Scope of Diabetes and Obesity - An Epidemic in Progress: Paradise Lost. Retrieved August 18, 2004 from http://www.medscape.com/viewprogram/360_pnt 4. Miller, Jennifer and Silverstein, Janet. (June 2004). Risk Factors for Cardiovascular Disease in Children with Diabetes. Practical Diabetology. The Diabetes Network. 5. Porta, M. et. Al. "Risk factors for progression to proliferative diabetic retinopathy in the EURODIAB Prospective Complications Study." Springer-Verlag Heidelberg, Turin, Italy: December 2001. 6. Krepcio, Deborah, et.al. (n.d.). Obesity in Young Children. Retrieved August 18, 2004 from http://nsweb.nursingspectrum.com/ce/ce243.htm 7. Statistics: America's growing numbers: Obesity and Inactivity. (n.d.). Robert Wood Johnson Foundation, Knight Ridder/ Tribune Information Services. Retrieved August 18, 2004 from http://www.rwjf.org/news/special/shape/chang_5.jhtml 8. Krepcio, Deborah, et. Al. (n.d.). Obesity in Young Children. Retrieved August 18, 2004 from http://nsweb.nursingspectrum.com/ce/ce316.htm Additional Links - Active Living By Design http://www.activelivingbydesign.org/ - American School Food Service Association http://www.asfsa.org/childnutrition/ - CDC State Based Physical Program Directory http://apps.nccd.cdc.gov/DNPAProg/ - Healthy People 2010 http://www.healthypeople.gov/Implementation/ - North American Association for the Study of Obesity http://www.naaso.org/ - Safe routes to Schools http://www.saferoutestoschools.org/ - 10,000 steps http://www.shapeup.org/10000steps.html Cydney Strand, RN, Clinical Educator, Lighthouse International, and Rebecca Helmer, Intern, Center for Education, Lighthouse International (sidebar, highlighted on cover page) New Children's Vision Channel on VisionConnection VisionConnectionSM (www.VisionConnection.org) presents the new Children's Vision Channel, a guide for parents and professionals on children's vision. Explore this new resource to find out how your child's vision develops, when and why you should take your child for eye exams as well as information about common pediatric eye disorders. In addition, you'll discover how to keep your child's eyes healthy and safe with prevention and safety tips while also learning about educational options for children with visual impairments. To visit the Children's Vision Channel, log on to http://www.visionconnection.org/Content/ChildrensVision/. The Benefits of Early Introduction to Low Vision Rehabilitation Services Mark E. Wilkinson, OD Introducing low vision rehabilitation treatment options to individuals early in their process of vision loss, even before they might benefit from this form of treatment, can be advantageous. Power through Knowledge When faced with a loss or impairment, individuals experience a variety of emotions. Some individuals deal with these emotions quickly, while others require time and assistance to work through states such as shock, anxiety, denial, mourning and depression to acknowledgment, acceptance and finally adjustment and adaptation. George Bernard Shaw stated, "Power is the faculty or capacity to act, the strength and potency to accomplish something. It is the vital energy to make choices and decisions. It also includes the capacity to overcome deeply embedded habits and to cultivate higher, more effective ones." When dealing with vision loss, an individual must be given the power through knowledge of how low vision rehabilitation treatment options will benefit them at various stages of their disease. This will allow them to cultivate new thoughts about how they will be able to function with a visual impairment. Assuaging Fear Some might argue that presenting low vision rehabilitation treatment options to an individual early in their disease process sends the message that this is what they will ultimately require. It is possible that for selected individuals, this may occur. However, as Ralph Waldo Emerson stated "fear defeats more people than any other one thing in the world." When faced with vision loss, fear of the unknown - fear of what the future holds - can make it difficult for that individual, their family, friends, teachers and employers to know how to move forward. Any discussion about low vision rehabilitation treatment options with an individual who is early in their disease process should be preceded by a caveat along the lines of ... "Information about these treatment options is being presented not as a predictor of 'this is where you are going to end up' but as a way for you to know about the treatment options available to allow you to continue to function efficiently in today's visually oriented society." With this information, the individual will understand that their visual impairment does not have to lead to a visual disability, or even worse a visual handicap. They will understand the timeliness and appropriateness of low vision rehabilitation and how it can allow them to maximize their remaining visual abilities. Parents' Concerns for Children with Visual Impairment Parents of children with congenital or early acquired vision loss will have many concerns about what their child's vision loss will mean both academically and functionally. These parents will have received the medical diagnosis for their child's eye condition, but will likely not have been told how this condition will affect their child's functional abilities. Statements such as your child is "legally blind," your child will "never be able to drive," your child will "never be able to read visually" or your child needs to be "placed in a special school" can be devastating to parents and should be avoided. Parents of a child who is visually impaired will benefit from information concerning how adaptations in the classroom can be made to help their child. Additionally, they should be made aware of how reading spectacles, magnifiers, hand-held and spectacle mounted telescopes, computer adaptations and video magnification options can be employed, when appropriate, to help their child achieve success both academically and later as an adult. Teenagers' and Working Age Adults' Concerns For teenagers and working age adults, receiving a diagnosis of unresolvable vision loss can create concern for the individual with respect to their ability to maintain gainful employment, continue to operate a motor vehicle and participate in activities of daily living. Older individuals faced with a diagnosis of permanent vision loss are often concerned about their ability to preserve their independence, including staying in their own home, maintaining their financial affairs and also continuing to drive. Teenagers and working age adults will benefit from an awareness of the myriad of devices available to help them maintain their independence while functioning at their fullest potential. The fear that vision loss will result in a loss of independence can ultimately lead to depression for older adults. Knowledge of how low vision rehabilitation treatment options can help them continue functioning independently will help alleviate these fears. As Francis Bacon stated, "Knowledge is power." Knowledge about how low vision rehabilitation treatment options can allow individuals with visual impairment to continue to function both independently and efficiently will give them the power to move forward with their lives. Mark Wilkinson, OD, Associate Professor, Ophthalmology, University of Iowa, Iowa City, IA (Callout) When faced with vision loss, fear of the unknown - fear of what the future holds - can make it difficult for that individual, their family, friends, teachers and employers to know how to move forward. Current Issues in Education and their Impact on Teaching Braille to a Child with Low Vision Kathy Boisvert, EdD One of the fundamental skills children must acquire in the early years of their formal education is the ability to read and write. For children with low vision, this also applies - such skills are just as essential for these children's long-term educational success as they are for other children. Legal Perspective Years ago, the deciding factor in whether or not to teach a child with low vision Braille came down to print literacy (Blake, 2003). If a child could read print, no matter how large, then Braille instruction was not indicated. Recent amendments in the Individuals with Disabilities Act (IDEA), a law which specifies educational services for individuals with visual impairments, now mandate braille instruction for blind and visually impaired children unless the IEP (Individualized Educational Plan) team determines otherwise. The IEP team must assess four areas before Braille instruction can be ruled out: 1. the child's present reading and writing skills 2. the child's writing needs 3. appropriate reading and writing media 4. any need the child might have presently or in the future for Braille (IDEA 1997 (Section 614(d)(3)(B)(iii))) Hence, this change in the legislative language requires that schools must provide Braille unless they can demonstrate that a child does not need Braille and will not need it in the future (Castellano, 1997). Before the amendments to IDEA, the decision as to whether or not a child with low vision would learn Braille was often made without considering long-term consequences. Children with low vision were often left with materials requiring them to leave the room to use a CCTV or audio device. Both situations isolate the child from his or her peers instead of unifying them (MacCuspie, 2002). In other cases, children were only introduced to Braille after they had fallen behind their peers (Blake, 2003; Castellano, 1997). Even with these new legal amendments, school district and administrator perspectives have a great influence over the amount of time their educational systems will offer a child with low vision direct Braille instruction. They often vary significantly from school to school and district to district. This inconsistent assessment of need for services will affect the uniformity of Braille instruction (MacCuspie, 2002). Since our current educational system may be creating a generation of illiterate individuals (Castellano, 1997), the battle over a child's "right to read" will likely continue unless children with visual impairments are evaluated properly to determine their appropriate reading medium. Reading Instruction The teaching of literacy skills while using Braille involves more than just introducing cells. The process of learning to read and fostering literacy skills is similar for children reading print or Braille. Literacy includes developing knowledge, independence and the thinking processes (Blake, 2003). According to Harley, Henderson, and Truan (1979) there are twelve thinking processes in reading. They are: 1. to discover the main theme with support ideas 2. to recognize a sequence of events or developments 3. to predict outcomes and anticipate reactions 4. to retain details from material of high concept density 5. to recognize stated or implied cause and effect 6. to recognize pivotal words that are cues to sequence, contrast, cause and effect 7. to distinguish between fact and opinion 8. to appreciate shades of meaning expressed by various words 9. to asses values and exercise judgment 10. to evaluate the source of the information 11. to adjust the pattern of listening and thinking to the type of material and to the listening purpose 12. to select and summarize material pertinent to the listening purpose. Direct Instruction The actual process of direct instruction of Braille to a child with low vision is almost identical to that of a child without functional vision. Some of the models of instruction for teaching reading include Basal Readers, Whole Language, The Language Experience and the Patterns Series (Blake, 2003). It is strongly recommended that children with low vision learn to read the code tactually and not visually, so a blindfold may be worn (Willoughby & Duffy, 1989). Asking children to close their eyes is very difficult because they may be tempted to peek. A blindfold can reduce the urge to use their vision instead of focusing on touch. Finally, the acceptance of Braille will impact the student's motivation and willingness to learn it. Involvement of the family, the school and mentors is critical in fostering a positive image of Braille (Blake, 2003). Teachers, parents, school districts and the student need to work together to help children learn to read Braille so they can read Braille in order to learn. References Blake, S. J. (2003) The great debate: Braille or print for students with low vision?. Retrieved September 8, 2004 from http://blindness.growingstrong.org/ed/aa050800a.htm Castellano, C., & Kosman, K. (1997). The bridge to braille. Baltimore, MD: National Organization of Parents of Blind Children. Harley R. K., Henderson, F. M., & Truan, M. B. (1979). The teaching of braille reading. Springfield: Charles C. Thomas. MacCupsie, P. A. (2002). Access to literacy instruction, A Discussion Paper. Toronto: CNIB. www.cnib.ca/eng/publications/access_to_literacy.htm Willoughby, D. M., & Duffy, S. (1989). Handbook for itinerant and resource teachers of blind and visually impaired students. Baltimore: National Federation for the Blind. Kathy Boisvert, EdD, Integrated Preschool Teacher, Child Development Center, Lighthouse International Working Through Change: A Young Person's Experience Angela Winfield For a high school student with progressive vision loss, preparing to attend college is a daunting challenge. However, my own experience shows that academic and social success are both possible. It just takes a great deal of extra planning, patience and persistence. During high school and the first half of my college career, I experienced staggered occurrences of vision loss which left me with no vision in one eye and minimally useful vision in the other. What made these losses manageable was the advance planning that my parents and I did to learn practical skills and functional coping methods in addition to laying out my future career plans and goals. I began learning Braille although I could still manage with large print, magnifiers and other reading aids. Some people told me it was not necessary to learn Braille since few titles were available in Braille and everything I would need for college would be available on tape. I was also told that Braille is much more difficult to learn as a teenager and, for that reason, I would never be fluent in it. Although there is some truth to these statements, I found that learning Braille, even if I was not fluent, was invaluable for tasks such as labeling, preparing notes for oral presentations and reading small bits of information like elevator panels, restaurant menus and room numbers. At the same time, I began to familiarize myself with the various organizations that offer audio texts, how to obtain titles and learn basic navigational skills for using them. When training with adaptive software, I worked with both a screen magnification program and a screen reader. Mobility-wise, after years of obstinate refusal, I decided to get formal cane training and started to open myself up to the idea of carrying a cane for identification purposes in certain situations. Although it may not have been the safest option, I at first used a cane only when I was traveling alone in places where nobody knew me. When the time came when I absolutely had to use a cane consistently, I was more comfortable and confident. I also did a lot of advance planning to answer the big question that every high school student has to tackle: "What do I want to do with my life?" As unfair as it is having a visual impairment - especially a progressive disorder, it forced me to think and plan ahead. It was imperative to lay out a firm and clear plan with one central goal and several options following a similar path. This entailed an enormous amount of early research and decision making but it helped in two important ways. First, it let me know exactly what the needed steps were to accomplish my goal - I was able to think about obstacles and challenges I would encounter and plan for accommodations. Second, it kept me focused. Social issues, on the other hand, can sometimes be even more difficult, especially in high school. I was never bullied, but I was ostracized and felt isolated because my peers did not know how to interact with me and also because I was too shy to initiate interaction with them. I was politely ignored and ended up befriending my teachers and guidance counselors. Things changed when I went to college. I got over being self-conscious about my visual impairment and became more comfortable with myself, my abilities and my needs. Once I did this, not only did I feel better about myself, but other people felt more comfortable with me. I felt better too about how to make people who were uncomfortable around me relax. I also found that I could use my blindness to make friends. Many people approach me offering help. Though sometimes frustrating and annoying, it can also be a way to meet interesting people. Depending on the situation, I will accept help, even if I do not need it. On a college campus, when people offer help, they do it because they may now know how to approach you and are trying to break the ice. Accepting help has led to good conversations and new friends ... and it has also led to being asked out on dates! Angela Winfield, senior pre-law/theology major, Barnard College, Columbia University, New York, NY. Note about the author: After recently spending a semester in London, England, Angela trained with her first guide dog at The Seeing Eye and interned with Mobility International in Washington, DC during the summer of 2004 (callout) As unfair as it is having a visual impairment - especially a progressive disorder, it forced me to think and plan ahead. It was imperative to lay out a firm and clear plan with one central goal and several options following a similar path. EnVision Cynthia Stuen, DSW Senior Vice President for Education Mary Ann Lang, PhD Vice President for International Programs Sarah Lloyd Director of Educational Publications Photo on page 13 by: Robert Lisack EnVision Editorial Board Mary Ann Lang, PhD, Chair Darren Albert, MD Kathy Boisvert, MA, EdM Tana D'Allura, PhD Michael Fischer, OD, FAAO Janice O'Connor, BA Norman B. Medow, MD, FACS Karen Seidman, MPA Cynthia Stuen, DSW Glenda V. Such, Med This newsletter is available in alternate formats and on our website: www.lighthouse.org. Lighthouse International Barbara Silverstone, DSW President and CEO Lighthouse International is a leading resource worldwide on vision impairment and vision rehabilitation. Through its pioneering work in vision rehabilitation services, education, research, prevention and advocacy, Lighthouse International enables people of all ages who are blind or partially sighted to lead independent and productive lives. Founded in 1905 and headquartered in New York, Lighthouse International is a not-for-profit organization, and depends on the support and generosity of individuals, foundations and corporations. Lighthouse International 111 East 59th Street New York, NY 10022-1202 Tel: (212) 821-9200 (800) 829-0500 Fax: (212) 821-9707 TTY: (212) 821-9713 E-mail: envision@lighthouse.org www.lighthouse.org (c) 2004 Lighthouse International