Saudi Retina Group Retina Conditions

26

Jan

Rare Conditions That Affect the Retina

The retina plays a very important role in our ability to see. Its function is to receive light, convert the light into neural signals, and trigger the optic nerve to transport those signals to the brain. Its structure is composed of a thin layer of photosensitive tissue that lines the back of the eye, making it vulnerable to a wide range of conditions and traumas. While some retina problems, such as age-related macular degeneration and diabetic retinopathy, are fairly common, the retina is also susceptible to a number of rare conditions. Birdshot Chorioretinopathy This autoimmune disease is a form of posterior uveitis, which is an inflammation of the uvea. The uvea supplies the retina with the vast majority of its blood supply. Early detection of this condition can be difficult, as the early symptoms (floaters and blurred vision) are similar to those of many other eye conditions. Other symptoms can include sensitivity to bright lights, night blindness, distortions in vision and color perception, eye pain, and disruptions to depth perception and/or peripheral vision. Severity can vary depending on the individual and can lead to swelling in the macula, which is the part of the eye that is responsible for controlling our central vision. Macular Dystrophy Macular dystrophy is a deterioration of the macula and is thought to be the result of a genetic mutation. It is caused specifically by a buildup of pigment in the macula’s cells and can cause central vision to become warped, blurry, or clouded. There are different types of macular dystrophy, some of which occur in children, while others occur in adults. Stargardt Disease This is a genetic retinal disorder that causes vision loss in children, adolescents, and young adults. It is sometimes referred to as Stargardt macular dystrophy or juvenile-onset macular degeneration. The main symptom that patients experience is the gradual loss of central vision in both eyes. Patients may also experience color blindness or light sensitivity. Retinoschisis This is a rare eye condition that is characterized by the retina’s separating into layers. Small cysts form between the split layers, which can damage the nerves and prevent light signals from being sent to the brain. This ultimately leads to blurry vision. In some cases, patients experience loss of peripheral vision or even total blindness. The disorder can eventually lead to retinal detachment. Retinoblastoma This is a rare form of eye cancer that affects the retina. It is most common in children but does occasionally occur in adults. Common symptoms include a whitish discoloration in the center of the eye when illuminated by a light, swelling, redness, and eyes looking in different directions. This condition is often associated with certain types of genetic mutations. These patients are also at a higher risk for other forms of cancer.

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Saudi Retina Group Retina Conditions

22

Jan

Macular Degeneration: What You Need to Know to Preserve Your Vision

Macular degeneration, also known as age-related macular degeneration (AMD), is the leading cause of blindness in people over the age of 50 in the United States. According to the American Academy of Ophthalmology (AAO), AMD affects up to 15 million people in North America. AMD occurs when the central portion of the retina, known as the macula, deteriorates. The retina acts sort of like a video camera with email capabilities – it records the images we see and then sends them to the brain using the optic nerve. The macula’s function is to focus the eye’s central vision, and it is the primary mechanism behind our ability to recognize faces, read, see color, and see objects in fine detail. When it deteriorates, the macula is unable to receive images correctly and thus cannot send the images to the brain. Common Risk Factors When it comes to the cause of AMD, there are a number of biological, medical, and lifestyle risk factors at play. You are more likely to be diagnosed with AMD if you: Are over the age of 55 Have a family history of AMD Are a smoker Are obese Have high blood pressure or cardiovascular disease Frequently expose your eyes to UV rays without protection Symptoms In the early stages of AMD, you may not experience any noticeable symptoms. As the condition progresses, it can cause blurred vision and, eventually, the total loss of the eye’s central vision. However, people with AMD may still retain their peripheral vision. At its most extreme, vision with AMD is like looking at a photograph that has been eclipsed by a black hole in the center. Because it can be easy to miss in the early stages, it’s important to make an appointment with a retina specialist if you experience any of the following symptoms: Worsening vision, especially if a quick onset or one eye worse than the other Distortion — straight lines starting to appear curved Darkened areas in the center of your vision Changing perceptions of color Prevention Because there is no known cure, your best defense against developing AMD is to focus on prevention. While certain risk factors, such as genetics and age, are out of your control, there are a number of lifestyle changes you can make that will help slow down the condition’s development. These lifestyle changes include: Not smoking Having regular eye exams Always wearing sunglasses that block 100% of UVA and UVB light Keeping blood pressure and cholesterol under control Maintaining a healthy diet Maintaining a moderately active lifestyle Achieving and maintaining a healthy weight

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Saudi Retina Group Retina Conditions

19

Jan

Everything You Need to Know About Retinal Tears

The retina lines the back of the eye and converts light into an electrical signal that are sent through the optic nerve to the brain where they are recognized as images. Tears can form in the retina which can lead to a retinal detachment or vision loss. What causes a retinal tear? A retinal tear is a defect in the retina that can occur at any age and can have many causes. Some of the more common causes of retinal tears include aging, eye trauma, eye surgery, or being severely nearsighted. Retinal tears most commonly occur when the vitreous gel that fills the eye separates from the retina, which is called a posterior vitreous detachment (PVD). This process is a normal part of aging and typically doesn’t cause any issues. For some, however, the vitreous is naturally stickier and pulls the retina abnormally, resulting in a spontaneous tear. “While there are some individual risk factors, there is no way to consistently predict who will develop a retinal tear or when it may occur,” says retina specialist Philip Storey, MD, MPH. “The key is catching the symptoms and tear early, which allows us to treat the tear and usually avoid a retinal detachment.” A retinal detachment is a serious condition that can cause blindness if not treated quickly. When a retinal detachment occurs, the retina falls off the back of the eye, like wallpaper falling off a wall. When diagnosed early during a dilated retinal eye exam, retina surgeons can repair a retinal detachment and prevent vision loss. What are the symptoms of a retinal tear? A retinal tear and detachment are not painful, but almost always have warning signs that you should be aware of, including: Sudden onset of floaters (small dots or cobwebs) Flashes of light in your vision Blurred vision A curtain-like shadow in your peripheral vision Certain factors that can put you at an increased risk of retinal tear or detachment, including having a family or personal history of retinal detachment, extreme nearsightedness, thinning of the retina (called lattice degeneration) or if you are over the age of 50. When should I see a doctor for a retinal tear or detachment? If you experience any retinal tear symptoms, our retina specialists recommend scheduling an appointment immediately to determine the best course of retina tear treatment. At Austin Retina Associates, our retina specialists are experts in the diagnosis and treatment of retinal tears and detachments. We offer 24/7 availability for retinal emergencies and have 16 locations throughout Central Texas.

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Saudi Retina Group Retina Research

18

Jan

Improving Sight Through Gene Therapy Research Studies

Gene therapy is a newer, innovative technology that is being researched as an effective treatment option for many medical conditions, including those affecting the retina and vision loss. At Austin Retina Associates, we are dedicated to advancing treatments that can help improve eyesight and restore vision loss through participation in leading-edge clinical trials. For decades, our retinal specialists have offered patients the opportunity to receive novel procedures and therapies through enrollment in clinical research studies. Vitreoretinal surgeon Dr. Edward Wood frequently serves as a principal investigator in retina research trials and is sharing his expertise on gene therapy to treat retinal conditions. How does gene therapy work? Gene therapy is a medical technology that treats disease by altering genes or gene expression in a certain part of the body, in our case, the retina. Gene therapy involves packaging a specific DNA sequence of a target gene into a delivery vector which is often an inactivated virus. Once delivered into the cell, the gene is expressed, generating protein(s) to restore cellular function and address the underlying disease process. Common ophthalmic gene therapy indications include inherited (genetic) retinal disease, but more common diseases (such as age-related macular degeneration (AMD) and diabetic retinopathy (DR) may also be targeted with approaches such as gene therapy. When targeting more common retinal diseases, the gene encoding a therapeutic drug is delivered into the retina, allowing the retina to become its own bio-factory and make the therapeutic drug on its own. How is gene therapy delivered? In the field of retina care, there are many different ways to administer gene therapy into the eye: (1) in office intravitreal injections, (2) in office suprachoroidal injections, and (3) sub-retinal gene therapy which is administered under the retina during vitrectomy surgery. What are the benefits of gene therapy to the patient? When targeting more common retinal diseases such as macular degeneration (AMD), allowing the retina to make the therapeutic drug on its own has the potential for reduced need for in-office visits/treatments and possibility more disease stability. What else should patients know before considering gene therapy? Because gene therapy modifies or supplements the DNA of your body, it is not a treatment that can be easily reversed or removed, and there are rare risks including inflammation. Gene therapy is typically a one-time treatment regimen, but some patients may still require additional treatment on top of the gene therapy. Austin Retina Associates Patients Benefit from Clinical Research Trials In addition to the hard work put in by our team of retinal specialists who seek and identify promising trials that could help improve retinal health and vision, we are especially grateful to our patients who are eager to participate in them. One Austin Retina patient who has been a part of multiple clinical research trials is 76-year-old Marilys Leslie, a retired teacher. In 2020, Marilys noticed problems with her vision when she would read music and the lines would mix together and some lines would disappear in the middle of her sight. Having a family history of macular degeneration, Marilys quickly made an appointment and was diagnosed with the condition. She immediately signed up to participate in AMD research studies with the goal of helping others maintain their eyesight. AMD caused her mother to lose vision in one of her eyes because at that time, treatments were not as advanced as they are today. Marilys’ vision has improved greatly following the trials allowing her to return to the things she has always loved like reading, needlepoint and playing piano. Her advice to others is “as soon as you notice symptoms, be seen, and make sure you do your annual vision checks.” She further adds to be aware of symptoms of deteriorating retinal health and vision loss, especially as you age.

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Saudi Retina Group Retina Research

17

Jan

Retina Care Highlights January 2023

Case Report: Inherited Retinal Dystrophy This is a patient with an inherited retinal dystrophy (IRD) due to a genetic mutation. The retinal dystrophies are a group of rare diseases that cause breakdown or degeneration of retinal tissue due to a change or mutation in a gene. There are more than 260 genes that can cause retinal dystrophies, and genetic testing (that can be performed in a clinic) is an important part of diagnosis and understanding the future prognosis. While the current treatment options for inherited retinal dystrophies are limited, there are many new therapies under investigation including gene augmentation and gene editing, optogenetics (allowing the remaining healthy retina to be activated by light), stem cell therapies, retinal prosthetic devices, and neuroprotective medicines. ## ARA’s Monthly Clinical Retina Research Update Every month we’ll be highlighting one of our clinical trials bringing new therapeutic options to patients. This month we’ll discuss a new therapeutic option for neovascular (wet) age-related macular degeneration. New Treatment for Wet AMD Neovascular (wet) age-related macular degeneration (AMD) showing hemorrhage (red spots in photo above), retinal pigment epithelial changes (white/brown spots in photo above), and subretinal fluid (black space in the cross-sectional optical coherence tomography (OCT) image below). Age-related Macular Degeneration (AMD) is the leading cause of blindness in adults in the United States, affecting approximately 11 million people in the US. Occasionally, new blood vessels from a tissue layer underneath the retina called the choroid may leak or bleed in a process known as “wet” AMD. The new blood vessels are called “choroidal neovascularization” (CNV) and are the hallmark of wet AMD. Over time, CNV may result in scar tissue or cellular loss (atrophy), which are less reversible. While wet AMD only represents 10% of all AMD cases, it is responsible for the majority of severe vision loss. In order to preserve the best possible vision, wet AMD usually requires regular intravitreal injections of pharmacologic agents every 4-12 weeks. A schematic of an intravitreal injection, whereby medicine is inserted into the vitreous cavity to reach the retina for a therapeutic effect. Austin Retina is participating in two clinical trials that could change this treatment approach for wet AMD. The trials explore a new technology called gene therapy where during a surgery the retina is given the instructions to make the same type of medicine patients receive in the clinic. This way, the body can make the drug in the retina right where it is needed on an ongoing basis with the goal of fewer injections in the clinic. Patients that enroll in the trial are randomized to receive either the new gene therapy approach or the current standard of care with intravitreal injections of ranibizumab (Lucentis) within the ATMOSPHERE trial at our Austin Main location or aflibercept (Eylea) within the ASCENT trial at our Round Rock location. If you’d be interested in learning more about these or other clinical trials at both our Main and Round Rock locations, please let your Austin Retina physician or staff member know. A schematic of the gene therapy treatment approach, whereby the “instructions” to make the medicine is given to the retina so that your eye can produce the necessary medicine on its own.

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Saudi Retina Group News and Events

12

Jan

Dr. Harper Saves Babies From Blindness as World Expert in Retinopathy of Prematurity

For the past 26 years, board certified ophthalmologist and fellowship trained retina surgeon Dr. C. Armitage Harper has been driving to hospitals from Georgetown to San Antonio to focus on one kind of patient: our smallest, most vulnerable babies who may have Retinopathy of Prematurity (ROP). ROP is an eye disorder in babies born before 32 weeks that can lead to lifelong visual impairment and blindness. Dr. Harper’s passion for saving babies from blindness was recently featured in an article by Nicole Villalpando in the Austin American Statesman. You can read the entire article below or find it on the Austin American Statesman website here. Dr. C. Armitage Harper gazes into the tiny eye of a premature baby in the neonatal intensive care unit at St. David's North Austin Medical Center. He's looking for signs of change. Catch problems quickly and the baby will grow up with almost normal vision. Find them too late or not look at all, and risk a lifetime of blindness. Harper is one of about 40 doctors in the world who specializes in retinopathy of prematurity, a disease that happens when the blood vessels in the retina grow abnormally. It typically happens in babies who are born before 32 weeks gestation and weighing less than 3 pounds. The oxygen they receive in their isolettes plays a factor. Give them too much and you risk damaging their eyes, but it's a delicate balance because these babies need the oxygen to survive until their lungs are fully developed. Every week, Harper takes his knowledge and skill to hospitals up and down Interstate 35. Before the pandemic, he also was traveling to other countries to help doctors prevent blindness through both the nonprofit organization Orbis and its Flying Eye hospital and his own nonprofit Small World Vision. Harper is highly respected even among the retinopathy of prematurity specialists and academics, says Dr. David Breed, the medical director of the NICU at St. David's Women's Center of Texas inside North Austin Medical Center, who has worked with Harper for decades and been with him at conferences. "When Armie speaks, they listen," Breed says. A promise made and kept Harper, 59, is the third of four Clio Armitage Harpers. His father was an obstetrician/gynecologist. His father's grandfather was also a doctor and a chief of ophthalmology. There were also writers in the family, including the original Clio Harper, who was the publisher of the Arkansas Gazette. When Harper was living in Tulsa as a boy, his dad took him to work for three nights in a row during which he watched the happiness of babies being born. Then his dad sent him to neighbor Dr. Bill Simcoe, who was a world-renowned ophthalmologist. "I loved microsurgery," Harper says he realized. After graduating from St. Stephen's Episcopal High School in Austin, Harper headed to Vanderbilt University and then to the University of Oklahoma for medical school. During his residency at Charity Hospital, Louisiana State University, in New Orleans, Harper made a promise. His wife, Ruthie, also a doctor, was pregnant with their daughter Holly and began having preterm labor at 18 weeks. Ruthie Harper made it to 34 weeks gestation with Holly. During that time of uncertainty, Armie Harper made this promise: "If they came out OK, I would do babies for the rest of my life," Harper says. That's where it all started. Holly Harper did make it OK. At 28, she just graduated from medical school at Vanderbilt and is doing a residency in pediatrics at Vanderbilt University Medical Center. Son Clio, 26, the fourth Clio Armitage Harper, has a degree in applied math from University of Southern California and is in the Marines and training to fly F-35 jets. Harper made good on his promise to take care of babies. After five years in New Orleans, he headed to Casey Eye Institute at the University of Oregon in Portland. There he received training in caring for retinas of all ages, including retinopathy of prematurity. He moved to Austin and joined Austin Retina Associates in 1995. About 80 percent of his work is in retina problems in adults because it's much more common to have a problem as you age. The other 20 percent is the kids he's watching carefully and then treating before they go blind. Treating children is much more difficult because of their size and because it has to last, Harper says. An adult patient who is 80 years old might experience a couple of decades of changed vision. "When we fix a child it's 80 years that we have to be able to influence," he says. "It's 80 years of vision." Getting ophthalmologists to go into eye diseases of the youngest patients is tricky. "People don't like kids," Harper says. "They are hard to examine. You can't ask them 'What do you see?'" Harper has to understand the minute differences in the retina to know whether its going to cause future problems or not. As Austin grows Last year, Austin Retina Associates screened 550 babies in NICUs from Round Rock to San Antonio. On one recent Sunday, Harper screened 14 babies at St. David's North Austin, 11 at Dell Children's and 15 in San Antonio. He likes to see babies on Sunday because there's less traffic, making the drive between hospitals easier, but he'll return whenever there's a baby who needs to be seen again. In the United States, more and more babies are surviving after being born as micro preemies. "We're saving babies now that previously did not have a chance," Breed says. "We're sending home babies with good outcomes that 25 years ago would have died." These micro preemies are at risk for infections, head bleeds and lung disease. In their eyes, the retina is only 50% developed, Harper says. Babies born at such early gestations need a lot of oxygen, but too much oxygen can impact the heart and lungs as well as the eyes farther down the road. "It's a double-edge sword," Breed says. They are learning, and Harper is helping to guide them with research and getting NICU patients enrolled in studies for new medications and techniques. "We're getting better at what we do," Breed says. "We do have some kids that have been micro preemies that had eye disease and do not have glasses." When Harper arrives in the NICU, he takes a cart with all of his supplies from isolette to isolette. He looks in the back of an eye and tells his assistant what he sees. "He's very quick," Breed says. "It minimizes the discomfort for the baby." Then Harper comes by and tells the nurses and doctors which patients he's worried about. "He can spot a kid weeks ahead of time" who will have more issues, Breed says. As Central Texas has grown and filled its NICUs with babies, Harper's job has grown. He now has a partner, Dr. Ryan Young, who also shares his specialty. A fellow retinopathy of prematurity specialist who was training Young in Miami reached out to Harper, who was told: "I know you need help. I trained him, and you will hire him." Harper is also doing training of his own as a consultant at University of Texas Health Science Center in San Antonio and at University Hospital in San Antonio, where he's teaching residents about retinopathy of prematurity. Watching medicine grow Harper has watched the science in this field evolve immensely. At first, doctors would freeze the outside walls of a retina to stop abnormal growth. Then Japanese researchers developed lasers to stop the growth. That's what Harper had in his arsenal when he was in training. "You may be destroying a third of the retina," Harper says. It left a generation of prematurely born children with a reduced field of vision and incredibly nearsighted. Now Harper is able through research studies to inject the eye with anti-vascular endothelial growth factor or anti-VEGF medications. He is able to save peripheral vision. Anti-VEGF medications allow doctors to delay laser treatment by targeting the protein causing the excess growth. When babies reach 60 weeks (gestation plus chronological age), lasers also can be used to make sure there won't be any abnormal growth, but those lasers are used to a lesser degree to preserve more peripheral vision and to not cause nearsightedness. More innovation is on the horizon. "The future is genetics," Harper says. That could mean injecting the eyeball to change the DNA to create cures. In the case of retinopathy of prematurity, innovation also could come with better prevention of premature birth. When Quin Aldredge was born at 25 weeks gestation in 2000, he weighed 1 pound 2 ounces. His twin sister, Josephine, weighed 1 pound 8 ounces. His father's wedding ring fit over Quin's shoulders. Josephine had mild retinopathy of prematurity, which resolved on its own, but Quin's retina was almost detached, says Quin's mother Tenley Aldredge. "One thing about Dr. Harper, he's so calm, he's so reassuring, he's so evidently confident. He's brave," Tenley Aldredge says. She remembers him coming into the room to explain the surgery needed to save Quin's eyesight. "He comes in with such expertise and calmness." Quin knows that his peripheral vision was compromised because they didn't yet have the anti-VEGF medication, but he says, without Harper, "I probably would have gone blind. I'm so lucky I ended up with Dr. Harper and that's how things worked out. I feel like if he hadn't been there, I would have ended up in a very different situation." Amy Lambert's daughter, Catherine, was born at 25 weeks weighing 1 pound 7 ounces in 2014. "Her eyes were still fused shut," Lambert says. "For the first 21/2 months, we were like 'keep the baby alive,'" she says. They had tried 10 rounds of in vitro fertilization and had five miscarriages before becoming pregnant with Catherine. Harper watched Catherine's eyes until it became clear they needed to do something. She was injected with anti-VEGF medication as part of a research study, and about a year after she left the NICU, she had laser surgery. Now, Lambert says, Catherine's vision "is dramatically better than mine. Her eyes are incredible." Because of the anti-VEGF, combined with the laser later on, Catherine has no peripheral vision loss. Lambert remembers the phone call from Harper on the day Catherine's eyes needed interventions. "He's just exceptional," Lambert says. "He just was making sure the parent was confident and comfortable, but he was being very direct and real about what the situation is. He's was very compassionate, but also this is the reality and this is what we need to do." Harper follows all his patients at least yearly, and Lambert says he cares about all aspects of Catherine's life and health and wants to know what her successes are. A global problem Harper did work with Vanderbilt in Haiti and with Orbis in China, and in 2016, he started his Small World Vision nonprofit. "I knew I wanted to do something to give back to the world and teach what I knew after doing it for 20 years," he says. In the United States, about 1,000 babies a year go blind because of retinopathy of prematurity, Harper says, but not in Central Texas because of access to care. In some parts of the world, retinopathy of prematurity accounts for 40% of blindness, yet it's one of the most preventable causes of blindness. When a friend wrote a paper about a NICU north of Mexico City that had a 40% rate of blindness, Harper called that friend and started talking about oxygen saturation rates. In the U.S. premature babies in NICU units have a blender that mixes ambient air and oxygen to lower the oxygen saturation level. It helps preserve the eyes. The blender is a $2,200 part. Harper weighs the cost of a $2,200 part versus the economic cost of a blind child in a developing country who cannot help his family. There are homes all over Central and South America with blind kids in them with ROP, he says. It's not just the ROP that could be prevented with oxygen blenders. Lung diseases and head bleeds come out of babies being hyper oxygenated, he says. Small World Vision was born when he traveled to Mexico with oxygen blenders carried in scuba bags. He wants to create self-contained NICU units that would have all the things a modern NICU needs, including the blenders, which he could bring to places that need them. Along the way, it's about educating, while listening, about the importance of not hyper oxygenating babies. "There is some resistance to change," he says. "You have to be gentle, you can't be a knowit- all heavy-handed American." For his Central Texas colleagues, though, the respect for his knowledge is there. "I truly feel we're so lucky to have someone of his caliber," Breed says. Harper not only treats Breed's patients, he's treated Breed's father for a retina issue and some of his colleagues. "He's that good, that highly respected," Breed says. For Harper, the work is interesting and full of innovation. It's also rewarding because it's about kids. It's a passion," he says. "You watch them grow ... you've made a difference in their lives.

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