2020 SEPTEMBER : simplebooklet.com

Newsletter September, 2020MESSAGE FROM THE PRESIDENTDear Readers,The times continue to be challenging. But we want you to know that TGF has been hard at work, with a special focus on our research program that awards seed grants for innovative projects that provide a platform for large and impactful research advances.We recently announced a new granting platform focused on the topic of intraocular pressure-independent mechanisms of optic nerve degeneration in glaucoma. Examples of research that may be considered for these one-year grants of $60,000 range from basic science to clinical interventions, such as genetics and genomic medicine, disease modeling, assessment of ocular perfusion, articial intelligence, and clinical research. On the funding side, we are in the midst of an Arts Challenge to Celebrate Vision, with artists and art lovers participating, to support our research program. Please visit our gallery at https://glaucomafoundation.org/art-challenge/ to learn more. It’s not too late to become a visionary for vision.And looking to the future of glaucoma care, TGF has inaugurated the Patricia Hill-Dr. Sanford Eisenberg Fellowship in Glaucoma, in support of younger ophthalmologists (specically women and/or members of an underrepresented minority) specializing in the eld. Two fellowships have been awarded for the coming year.As you can see, while the present days are dicult, we are looking ahead to a brighter future. As always, we thank all our friends and supporters who help us make important strides.Elena Sturman

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Doctor, I Have a Question.Is There Progress in Understanding the Genetics of Glaucoma?Question answered by John H. Fingert, MD, PhD Hadley-Carver Chair in GlaucomaProfessor, Department of Ophthalmology and Visual ScienceDirector, Glaucoma Genetics LabCarver College of Medicine, University of IowaGenes and heredity are important factors that help determine who gets glaucoma and our growing understanding of the specic genes that contribute to major forms of glaucoma is encouraging. There are three genes that each cause primary open-angle glaucoma (POAG) on their own -- just one gene with minimal inuence from other genes or the environment. We call that simple, or mendelian genetics. If you inherit that gene, you get the disease; if not, you don’t. But, only about one in 20 glaucoma cases works that way. In the majority of cases, including such adult onset forms of glaucoma as POAG, low-tension glaucoma, and glaucoma associated with exfoliation, it’s not a single gene, but the interaction of multiple genes and also environmental factors. We call that complex genetics.One of the rst complex genetic risk factors identied for glaucoma – we call them risk factors when they don’t cause the disease on their own -- was the discovery that the LOXL1 gene is a risk factor for exfoliation syndrome. Defects in the LOXL1 gene may confer up to 20-fold increased risk for exfoliation syndrome and glaucoma related to this condition! Six other genetic risk factors for exfoliation have been discovered, but make much smaller contributions of risk for exfoliation syndrome than LOXL1. In addition to genetic risk factors, research has also suggested that environmental exposures, such as sunlight, may also contribute some risk for exfoliation syndrome.Some day we may be able to accurately predict a person’s risk for getting exfoliation syndrome by testing for genetic factors such as LOXL1, however, at present, studies of these genes are most useful for research.How is it that one person's gene contributes to giving them glaucoma? Genes are like cookbook recipes that contain instructions for a cell to make a protein. Sometimes there’s a misspelling in the recipe (or in our analogy - a mutation in a gene) that causes a cell to produce an abnormal protein that doesn’t do its job and can cause a disease. A mutation can also change the amount of the protein that is made – it can rev up a gene so that too much protein is made, or idle back a gene so that too little protein is made. Geneticists believe that this is one of the more common ways that risk factor genes lead to disease - by stimulating abnormal levels of protein production. Mutations in the LOXL1 gene are thought to lead to disease in this way, by altering the amount of LOXL1 protein production.

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Newsletter September, 2020Because the LOXL1 gene has such a strong inuence on risk for exfoliation syndrome and glaucoma, there’s a lot of interest in identifying the specic mutations in this gene (misspelling of its genetic code) that are important contributors to disease. Initial studies searched for one or two common LOXL1 mutations that might be responsible for increased risk for exfoliation syndrome in most patients. However, none were found. Over time we have learned that risk for exfoliation syndrome may instead come from dozens or even hundreds of rare LOXL1 mutations. Each exfoliation syndrome patient may have unique LOXL1 mutations and there may be dozens or even hundreds of such mutations to identify – an elusive task until recently.With standard studies of genes we’ve only been able to look test mutations in the LOXL1 gene one by one to nd out if they have the capacity to increase or decrease activity of the gene. That’s an arduous and time consuming task. Now, with a grant from The Glaucoma Foundation, my lab is using a new sequencing technology not used in ophthalmology before, a technique called deep mutational scanning, to study mutational eects on a very large scale. It allows us to look at every possible change in the LOXL1 gene up to 100,000 sequence changes. This will help us nd numerous, rare LOXL1 mutations and start understanding how each of them aects this gene’s activity. We are hopeful that this new research approach will help us determine why people with these risk factors get disease and what we can do about it.

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Too Much Screen Time during COVID?During these days when so many of us are spending increased hours working or communicating in front of a home computer or another digital screen, it’s particularly important for those living with glaucoma to be aware of concerns regarding excessive digital use. Dry eyes, watery eyes, blurred vision and increased sensitivity to light are some of the most common symptoms of constant computer use.Simple adjustments such as choosing a display setting with an anti-glare feature and pointing your monitor away from a window can drastically aid readability as glare and incorrect contrast levels can impact a patient’s vision.And maybe most important, take regular breaks if you nd yourself working with computers, tablets or anything that displays digital images for the majority of the day. Here’s an easy formula – every 20 minutes, try to focus on something 20 feet away for at least 20 seconds.Some COVID Suggestions1. Substituting glasses for lenses can decrease irritation and force you to pause before touching your eyes. While there’s no evidence that wearing contact lenses increases your risk of coronavirus infection, contact lens wearers touch their eyes more than the average person. 2. Stock up on eye medicine prescriptions if you can. If your insurance allows you to get more than one month of essential eye medicine, such as glaucoma drops, you should do so. And when your three-months supply is getting low, don’t wait -- get the prescription lled early so you have it on hand. 3. Avoid rubbing your eyes. If you feel an urge to itch or rub your eye or even to adjust your glasses, use a tissue instead of your ngers. Dry eyes can lead to more rubbing, so consider adding moisturizing drops to your eye routine. If you must touch your eyes for any reason — even to administer eye medicine — wash your hands rst with soap and water for at least 20 seconds. Then wash them again after touching your eyes. 4. Avoid sharing eye drops or eye makeup with family or friends. Same goes for using bathroom hand towels on your face.

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Newsletter September, 2020LIVING WITH GLAUCOMAMeet Barry FriedbergBy anyone’s estimation, Barry Friedberg is living a very full and active life. An investment banker and philanthropist, Friedberg has been a glaucoma patient for over 30 years. He’s had laser and cataract surgery, two trabeculectomies and shunt procedures in his left eye, one trabeculectomy in his right eye, as well as a corneal transplant and macular pucker and macular edema in the left. Acuity is 20/200 in his left eye and 20/40 in the right. Neither is correctable.“I get great treatment, he says. I’ve got doctors for these various conditions and I see them all regularly. I’m very fortunate. I haven’t given up anything except that I no longer drive a car. My goal is to just keep doing normally as much as I can.”Barry Friedberg puts in a long day as co-chairman of the board of New York Private Bank and Trust – these days working remotely on the phone and via Zoom. He also remains very active with the New York City Ballet, where he was chairman of the board; is a trustee of SCAN-Harbor, a group that works with inner-city kids in East Harlem; and serves on the board of The Glaucoma Foundation. Earlier this year Friedberg and his wife Charlotte Moss established the Foundation’s rst named research grant. Anything you do that is good for your cardio/vascular system is likely to be helpful, he advocates. For his part, he exercises most days and continues to play golf and to ski.What advice does Friedberg have for newly-diagnosed glaucoma patients? “A heart healthy diet and regular exercise. Most important - you must listen to your doctor and be incredibly disciplined about your drops,” he says. “I’ve thought about why compliance is such an issue for glaucoma”, he adds. “I think part of the problem is that usually, when you take medicine, you expect to get better. With glaucoma, it’s dierent. You must take your medicine to keep your glaucoma from getting worse. Without taking your drops, you may not notice any slow changes, but they are taking place!”“It takes motivation. My motivation is to enjoy an active life with my family and friends and be a contributing partner in my business and philanthropic activities.”

2020 SEPTEMBER

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