Other Support Services

Besides the support of Aniridia Foundation International, there are several other services for the blind and visually impaired. Parent Training and Information Centers and Community Parent Resource Centers can help parents with children who are blind or visually impaired. These centers are located all over the United States, and they help families of children and young adults with disabilities (from birth to age 22). Also, they help families obtain appropriate education and services for their children with disabilities, train and inform parents and professionals on a variety of topics, resolve problems between families and schools, and connect children with disabilities to community resources that address their needs. For more information on a center located in your state, please visit http://www.ilru.org/html/publications/directory/index.html. All websites mentioned in this chapter will be listed at the end of this chapter along with several other websites for other services and organizations that may assist you. The Lighthouse International has been helping visually impaired people since 1905. It strives to help visually impaired individuals live better lives and to be in independent. It is also dedicated to preventing disabilities. To accomplish this it has research studies, prevention efforts, advocacy initiatives, education programs, and vision rehabilitation services. For more information, please visit the Lighthouse International website at www.lighthouse.org. The Lions International began to dedicate services to the visually impaired in 1925 when Helen Keller challenged the Lions Club to be “knights of the blind in the crusade against darkness.” Today Lions is successful in helping those who are blind and visually impaired. A very important program Lions has is called SightFirst. This program was started in 1989 to help prevent blindness. Just a few of the services are helping to construct or expand eye hospitals and clinics, contributing to cataract surgeries, and providing sight-saving medication. This program is also striving to eliminate preventable childhood blindness, and to control river blindness and trachoma. For more information, please visit the Lions International website at www.lionsclubs.org.

Teachers’ and School Administrators’ Guide

A child with aniridia is being placed in your classroom, and you may be wondering whether their needs are different from those of your other students. This information has been written to answer any questions or concerns about this new teaching experience. When a child with a visual disability is enrolled in a regular class, careful consideration is given to assess whether he or she can compete both academically and socially. Although he or she may need to cope with visual and emotional stresses usually not encountered by non-disabled children, he or she will soon become a fully participating member of the class. In order to ensure that the child with aniridia has the opportunity to reach their full academic potential, the child and you will hopefully receive the supportive services of a special teacher of the visually impaired (VI teacher) to discuss classroom situations. A child with aniridia is generally considered eligible for special services of a resource and/or VI teacher if their measured visual acuity is 20/70 or less in the better eye with corrective lenses (in other words, if what he or she can see at twenty feet is no more than what a person with normal vision sees at seventy feet). Children who have a measured visual acuity of 20/200 or less in the better/corrected eye or who have a visual field of no greater than twenty degrees are classified as legally blind. Aniridia is a partial or complete absence of the iris, and it may be associated with other ocular defects such as macular and optic nerve hypoplasia, cataract, corneal surface abnormalities that lead to decreased vision, and nystagmus. The vision may fluctuate, depending on lighting conditions and glare. Glaucoma is a secondary problem causing additional visual loss over time. Because of poor visual acuity and nystagmus, low-vision aids are very helpful. Lifelong regular follow up care is necessary for early detection of any new problem so that timely treatment is given.

Cornea and Lens Problems in Aniridia

The corneal epithelium is a rapidly regenerating, stratified squamous epithelium. Homeostasis of corneal epithelial cells is an important prerequisite, not only for the integrity of the ocular surface, but also for the visual function. The maintenance of a healthy corneal epithelium under both normal and wound-healing conditions is achieved by a population of stem cells located in the basal layer of limbal epithelium. The Limbus represents the transition zone between the peripheral cornea and the bulbar conjunctiva. The stem cells from the limbus generate the transient amplifying cells that migrate, proliferate, and differentiate to replace lost or damaged corneal epithelial cells. In patients with aniridia, there is a primary dysfunction of these limbal stem cells (see Figure 6.1). The cornea is affected clinically in 90 percent of the patients with aniridia. In most cases, the cornea in aniridic patients appears normal and transparent during infancy and childhood. However, during the early teens, the cornea begins to show changes. The early changes are marked by the in-growth of opaque epithelium from the limbal region into the peripheral cornea, which represents conjunctival epithelial cells, goblet cells, and blood vessels in the corneal epithelium. These changes gradually progress toward the central cornea and may cause corneal epithelial erosions and epithelial abnormalities that eventually culminate in opacification of the corneal stroma, which leads to vision loss. With the gradual loss of limbal stem cells, the entire cornea becomes covered with conjunctival cells. Eventually, many patients develop total limbal stem cell deficiency. These abnormalities usually become more pronounced with aging. The corneal abnormalities seen in aniridia are collectively termed “aniridic keratopathy”. Significant corneal opacification may occasionally be the initial manifestation of aniridia. Abnormal tear film stability and meibomian gland dysfunction are also observed in patients with aniridia. This can lead to dry eyes, aggravating corneal erosion and ulceration observed in aniridic patients. Sometimes, aniridia is associated with “Peter’s anomaly,” in which central corneal opacity is present at birth along with defects in the corneal endothelium and Descemet’s membrane.

Parents’ and Families’ Guide

When your child is first diagnosed with aniridia or WAGR syndrome, you will have several questions for your child’s ophthalmologist. To be prepared for the first appointment, the best thing to do is make a list of questions. Some questions other parents have had are listed at the end of this chapter. If you choose to, you can use these as a starting point and add more questions to the list as you think of them. At the appointment, be sure to have your list of questions to ask the doctor. Be sure to repeat what the doctor has told you to make sure you understand him or her. If you’re not sure, then ask the doctor to try to explain it in a different way so you can understand. It is your child, and you should be as informed as possible, and the only way to do that is to ask questions and to have a good relationship with your child’s ophthalmologist. Other questions parents have had that you do not necessarily need to ask an ophthalmologist will be discussed in this chapter. When a child is first diagnosed, a question asked by many parents, especially mothers, is, “Was this my fault?” No, it was not. Do not ever blame yourself for your child having aniridia or WAGR syndrome. It is a genetic disorder that you could not have done anything about, unless you do have it yourself. There is no reason for you to feel guilty or to put blame on yourself for something you had no control over. One way to help get over any of these feelings is to join Aniridia Foundation International, where you can meet many other parents and people with aniridia. From meeting and speaking with them, you can get the support you need. . On AFI’s members’ area website, I asked parents, “What questions did you have when your child was diagnosed?” One mother responded, “Mainly I wish someone had told us that he would be able to see at least a little bit and that the disastrous picture that was painted for us at the start was not actually representative of what he would turn out to be.”

Parents’ Experiences

Editor’s Note: Since not much was known about aniridia for many years some doctors did medical procedures that we now know should not be done on aniridic eyes. Please do not use any specific story here as a guide for your journey, because some of the medical procedures mentioned should not have been done. Furthermore, please make sure to see a doctor with experience and knowledge of anirida. Lastly, please keep in mind, each person’s journey has different medical issues. Not everybody will experience the exact same medical challenges in their journeys. When we face challenges in our lives, we turn to those who love and support us. Yet sometimes it isn’t enough; we need the support of those who know how we are feeling and what we are going through. Parents who have children with aniridia can help each other by talking, lending advice, or just being there with a shoulder lean on. The stories compiled in this chapter are from parents who wish to share their personal experiences and struggles of having a child with aniridia. It is our wish that these stories will give you hope and inspiration as well as show you the love a parent has for a child, even when it seems like there is no light at the end of the tunnel. When I was 29 years old, we were blessed with our third child. We already had two sons, and now we had a little girl! From the very beginning, I knew something was wrong. Amy seemed to keep her eyes closed most of the time. When I took her outdoors, she would bury her head in my shoulder. I told our pediatrician to look at her eyes, and he told us not to worry. He said that she had muscle problems that surgery could correct. Over the months to follow, we decided to see an ophthalmologist. He told us that Amy had been born with a rare eye condition called aniridia.

Low Vision and Aniridia

Aniridia affects many visual aspects of one’s life. This chapter will highlight many of these effects. Functional changes that occur due to aniridia will be discussed. Once the patient’s vision is assessed and goals are established with a thorough eye examination, numerous avenues can be taken to ensure the support of all the patient’s health care providers. Referrals can be made to appropriate professionals to ensure full understanding and management of the ocular condition. Visual acuity is the measurement used to determine vision levels. Normal vision is 20/20, which means that what a normal person sees at 20 feet, the patient sees at 20 feet. If their vision is 20/40, they would need to be at a distance of 20 feet to see what someone with normal vision can see at 40 feet. The decrease in visual acuity in those with aniridia usually ranges from under 20/60 to as low as approximately 20/400. This is due to the lack of development of the macular area, or fovea. The fovea is responsible for our clearest, most precise vision. Those with visual acuity of 20/200 or worse that is best corrected while wearing spectacles or contact lenses in the better-seeing eye are considered legally blind. While most people who suffer from aniridia are not legally blind, they are visual impaired. Visual impairment is defined as visual acuity of 20/70 in the better-seeing eye when optimally corrected with glasses or contact lenses. The designation of “visual impairment” also has a functionality factor. If a person has a reduction in the ability of the eye or the visual system to perform to a normal ability, he/she is considered visually impaired. Visual field is the measurement of peripheral vision. Those with aniridia may have decreased peripheral vision. This is not directly due to aniridia, but rather to glaucoma, which may develop due to structural changes in the eye. Glaucoma is explained in detail in the glaucoma chapter of this book.

Personal Experiences of Individuals with Aniridia

Editor’s Note: Since not much was known about aniridia for many years some doctors did medical procedures that we now know should not be done on aniridic eyes. Please do not use any specific story here as a guide for your journey, since some of the medical procedures mentioned should not have been done. Furthermore, please make sure to see a doctor with experience and knowledge of anirida. Lastly, please keep in mind, each person’s journey has different medical issues. Not everybody will experience the exact same medical challenges in their journeys. Many people affected by aniridia go through similar experiences. Some deal with bullies differently than others, and some may have difference experiences with employment-related issues. Whatever experiences you have had in your life, these stories will show that you are not alone. Many others have felt and gone through situations similar to ones you have gone through. It is our hope that these stories inspire and help you with any struggles you may have now or in the future. I was born with a case of sporadic aniridia in 1976 in Maui, Hawaii, to my parents, Mike and Pat. I have one brother two years older who has normal vision, but my mom had a miscarriage of a girl with the same aniridia condition. I had a normal childhood, doing everything the majority of kids did, including soccer, Cub Scouts, body surfing, boogie boarding, and bicycling. In my early teens I competed in outriggered canoe racing. This was questioned due to my vision, but my six-man crew placed first in the state championship regatta. This experience inspired me to continue in the area of sports and enjoy them while testing my limits, which was done with cross-country running and track and field in high school. When I graduated from Maui High School in 1994, it was considered a great accomplishment by my parents and many teachers who had doubts about my learning abilities due to the inability to read the work written on the board.

Glaucoma Problems Associated with Aniridia

Glaucoma is a potentially vision-threatening problem that is commonly encountered in aniridia patients. This condition may develop at birth, or shortly thereafter. More commonly, however, glaucoma is acquired later in childhood or even young adulthood. If unrecognized and untreated, glaucoma can result in blindness. For this reason, it is important to be vigilant in watching for this condition in children affected with aniridia. Vision lost due to glaucomatous damage cannot be regained at a later time. In addition to glaucoma, children with aniridia may demonstrate other problems with their vision. They may have refractive errors, corneal or retinal problems, or abnormalities of eye movement. Foveal hypoplasia (lack of development of the retina) may limit vision in some children. In aniridia patients, cataract (opacification or cloudiness of the lens) is seen with approximately the same prevalence as glaucoma. Cataract, however, differs from glaucoma in that the vision loss due to cataract is reversible. Glaucoma is suspected in aniridia patients when there is an increased intraocular pressure. Glaucoma can be definitely diagnosed when changes of the optic nerve occur due to this elevated intraocular pressure. At the later stages of the disease, visual field loss occurs. In the normal eye, the fluid (aqueous humor) in the front of the eye (the anterior chamber) is produced by the ciliary body, which is located behind the iris (see Figure 5.1). The fluid produced from the ciliary body flows forward into the anterior chamber, where it drains from the anterior chamber angle through tissue called the trabecular meshwork. When there is an abnormal situation, the fluid exits the eye poorly or not at all, and the intraocular pressure may be increased. The fluid may be blocked from exiting the eye by a closed angle, or may flow poorly out of the eye even though the angle is open (see Figure 5.2). The angle may be closed in aniridic patients when the stump of residual iris covers the trabecular meshwork in the anterior chamber angle.

Aniridia—Epidemiology and Genetics

Aniridia literally means “without iris.” The iris is the part of the eye that gives color to the eye. But the term aniridia encompasses more than its literal meaning and includes abnormalities of almost all the structures of the eye, from the cornea up to the optic nerve and including the angle of the anterior chamber, the lens, and the fovea. This is why aniridia is often called a “panocular disease.” The cornea is normally an avascular (lacking blood vessels), transparent tissue on the front part of the eye. In individuals with aniridia, it becomes vascularised. A bunch of blood vessels grows over the cornea: this growth is called a pannus. The angle of the anterior chamber is that part of the eye between the cornea and the iris that drains the fluid within the eye out of the eye and maintains the pressure within the eye at normal levels. Aniridia affects this part and hampers the fluid flow out of the eye, thereby increasing the pressure within the eye, leading to a condition called glaucoma. The lens is a biconvex structure behind the iris that focuses light rays entering into the eye onto the retina, which converts these light signals into electric signals that are carried through the optic nerve to the brain. In aniridia there may be displacement of the lens from its normal position, which is called subluxation or dislocation, or the normally clear lens may turn opaque, which is called a cataract. The fovea is the area of the retina that is responsible for clear vision. It may be underdeveloped; this is called foveal hypoplasia and affects vision. Similarly, the optic nerve that carries the visual sensations may also be underdeveloped, affecting vision. Besides these anatomical abnormalities, functional problems in addition to decreased vision include nystagmus (involuntary wobbling movement of the eye), squinting, and intolerance to light (photophobia). In this chapter we will discuss mainly the epidemiology (incidence and distribution of diseases) and genetic aspects of aniridia.

Inspirations

This chapter is a collection of stories from those who do not let anything keep them from achieving their goals and who inspire us. These individuals show us there is hope and that anything is possible. My name is Eric, and I am 27 years old. I was born with familial (hereditary) aniridia. I also have nystagmus, beginnings of a cataract in my right eye, lens implant in my left eye, and corneal keratopathy in both eyes (but it is worse in my left eye). I am married to my lovely wife, Amber, and we have four children. They are: Joseph (ten years old), Sarah (seven years old), Aniston (four years old), and Christopher (two years old). The two oldest have normal vision and the two youngest have aniridia (how’s that for the law of randomization?). Currently, I work as a research assistant at the University of Florida as part of my doctoral degree. I also own my own company where I work as an occupational therapist with blind and low-vision individuals of all ages. Initially when I went to occupational therapy school, I was not interested in working with people who have vision impairments. Instead, I specialized in working with older adults. After working in the field for several years with older adults, I began to notice that many of my elderly patients had vision problems. Although I grew up with a visual impairment, I did not feel professionally qualified to address their vision issues because learning how to adapt to a visual impairment is different for someone born with a visual impairment than someone who acquires a visual impairment later in life. So I went back to school to gain additional training in working with people who have visual impairments. Part of my job as an occupational therapist is to evaluate patients for specific assistive-technology needs, recommend products that would increase their independence, and to teach patients with multiple disabilities how to use these devices.