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Case Study – Macular Degeneration (Age-Related and Juvenile) CASE 1 Name: Robert Claire Age: 63 years old Condition: Age-related Macular Degeneration (AMD) Narrative: Robert Claire is a 63 year old man who has developed a visual impairment due to macular degeneration. At the age of 51, Robert began noticing that his vision was not as clear as it used to be. His vision seemed a bit blurry and he was not seeing details as clearly as he once had. The blurriness was only present when he was looking straight ahead, so he attributed these symptoms to just needing new glasses. As the months passed, Robert realized that his ability to see worsened during the day, but seemed to improve at night. He found that certain lights, such as those from his television and computer screen, began to bother him and he noticed that colors did not seem as bright and vivid as they had in the past. Robert finally decided that he would make an appointment with his ophthalmologist to see about getting new glasses. During the eye exam, the ophthalmologist performed several tests including a visual acuity test, the Amsler Grid (a test resembling a piece of graph paper with a dot in the middle used to test the macular area), and an ophthalmoscopy procedure in order to view the back of the eye. The ophthalmologist found deposits of drusen (accumulations of waste products in the tissues underneath the macula) which lead him to the conclusion that Robert had dry macular degeneration in both eyes. The ophthalmologist explained to Robert his condition being a progressive eye condition affecting the macula of the eye, where the sharpest central vision occurs. This was the reason Robert was only noticing blurriness when he was looking straight ahead. Robert also learned that the macula has the highest concentration of cones (the cells that provide color vision) which clarified why he was not seeing colors as clearly. The ophthalmologist also informed Robert that the macula is responsible for daylight vision which was why his vision was worse during the day. The doctor explained to Robert that there was no treatment for dry macular degeneration. The doctor also wanted Robert to begin monitoring his vision at home on a regular basis and to continue with routine eye examinations. As time passed, Robert’s ability to see details continued to diminish. Robert found activities such as reading, driving, watching television, and recognizing faces were becoming difficult to do. Robert’s sensitivity to light was worsening as well, so he often wore sunglasses to cope with bright lights. He also began noticing new symptoms. Straight lines and edges began to appear as wavy lines and blurry edges. It often appeared that straight edges of buildings were curved. Then, one morning when Robert woke up, he saw “dirty spots” on the ceiling. These “dirty spots” were like smoky, circle areas that he could see through, but wouldn’t go away. This is when Robert returned to his ophthalmologist who referred him to a retinal specialist. The retinal specialist concluded that Robert’s right eye had now developed occult choroidal neovascularization, a form of wet macular degeneration. The retinal specialist explained to Robert that with this form of wet macular degeneration, abnormal blood vessels grow beneath the retina (the back, inner part of the eye where the macula is found) and slowly leak blood and other fluids causing the retina to become elevated and uneven. Robert also learned that the “dirty spots” he was seeing were called scotomas which are blind spots in the central vision caused when a large area of cells stop working. Robert’s retinal specialist informed him about some different treatment options available to help slow or stabilize his vision loss. After consideration of the options, Robert began taking injections to help stabilize his macular degeneration. He also began receiving services from the Division of Services for the Blind to help him adapt to his visual impairment. CASE 2 Name: Annie Smith Age: 10 years old Condition: Juvenile Macular Degeneration (JMD) / Stargardt’s Disease Narrative: Annie Smith is a 10 year old, fifth grade student who attends Summersville Elementary School. She lives with her mother, father, and younger brother, Ronny. Annie has been diagnosed with Stargardt’s Disease, also called fundus flavimaulatus or macular dystrophy, which is a form of Juvenile Macular Degeneration. When Annie was in second grade, she began complaining to her parents that she was having a difficult time seeing. She explained that everything she looked at directly in front of her appeared blurry. She was having a hard time seeing the blackboard at school and reading books and materials. Right away, Annie’s parents made an appointment with the local ophthalmologist. During the eye exam, the ophthalmologist found Annie’s visual acuity to be 20/40 OU, so he prescribed eye glasses to help correct this issue. After getting her new glasses, Annie continued to notice that her vision was blurry. She thought that she was just having a hard time getting used to her new glasses, so she didn’t bother saying anything to anyone. Annie also knew that her parents had spent a lot of money on her new glasses, so she wanted to use them since everyone kept telling her the glasses were going to help her see better. Eventually, Annie began noticing some other changes with her eyes and vision. She noticed that her eyes were very sensitive to the sunlight when she was playing outside at recess and it took her eyes a while to adjust when she went back inside. She noticed when she walked into her bedroom at night, it took six or seven minutes for her eyes to adapt to the darkened area. When Annie went to third grade, her teacher placed her right in the center, front of the classroom since Annie had some past vision issues. Annie noticed that being close to the blackboard made it even more difficult for her to see. Schoolwork began to become very difficult for Annie, who had always been an honor roll student. Things were just getting too hard to see because they were so blurry. Annie didn’t understand why her glasses were not working the way everyone told her they would. Soon, Annie began seeing grayish, hazy spots in her central vision that just would not go away. This really scared Annie, so she told her parents about this and all of the other things she had been noticing. Once again, Annie’s parents quickly made an appointment with the local ophthalmologist. Annie’s ophthalmologist was surprised to find that her visual acuity had decreased to 20/100. It was during an ophthalmoscopy procedure in order to view the back of Annie’s eye, that the ophthalmologist noticed yellow-white spots in and around the macula, the part of the retina (the layer of tissue lining the back of the eye) responsible for central vision. The ophthalmologist explained to Annie’s parents that Annie had a condition called Stargardt’s Disease, a form of Juvenile Macular Degeneration. He told them that this genetic form of macular dystrophy is the result of both parents carrying the recessive gene which meant they did not know that they were carriers. He informed Annie’s parents that presently there is no cure for Stargardt’s disease and there is very little that can be done to slow its progression. The ophthalmologist referred the Smith family to genetic counseling and also a support group for families of children with visual impairments. Annie, now in fifth grade, receives services from a Teacher of the Visually Impaired (TVI) who works with Annie and her teachers to make adaptations and modifications needed to make Annie as successful as possible. Annie’s TVI is teaching her to use a wide range of specialized equipment such as magnifiers, large print books, electronic reading devices, and braille. Annie also wears sunglasses to help minimize her exposure to bright light. Because of a severe loss of depth perception, Annie is also receiving Orientation and Mobility (O&M) services to learn how to use a cane to travel safely in her school and community. Through these specialized services, Annie and her family are learning day by day how to cope and live with JMD.