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NOVEMBER 2024 NEWSLETTER“Doctor, I Have A Question” Gustavo De Moraes, MD, PhD, MPHThe State of Genetic Testing for GlaucomaJaney Wiggs, MD, PhD Glaucoma Coach Hillary Golden Message
Newsletter November, 2024MESSAGE FROM THE PRESIDENTDear Readers,During this season of Thanksgiving, I want you to know how grateful we are for our friends and supporters who make TGF’s research and educational initiatives possible. We thank you so much.As some of you will remember, we launched our successful webinar program during the height of Covid, as a way to continue our educational outreach during that dicult time. The growing success of this ongoing initiative is heartening.In our most recent webinar Dr. Janey Wiggs provided important updates on the status of genetic testing for glaucoma. You can read about it in this newsletter and listen to her entire talk on our website if you missed it. We are also looking forward to the next webinar on November 13 with Dr. Nathan M. Radclie, Associate Clinical Professor of Ophthalmology at the Icahn School of Medicine at Mount Sinai. Dr. Radclie will talk about “interventional glaucoma,” which reects a shift away from beginning treatment with eyedrops and only progressing to more interventional procedures at the middle or end of the disease progression. Also this month, our Scientic Advisory Board will be reviewing 17 research grant applications and assessing which projects, including donor-directed grants, are ready for funding. In our next newsletter, we will tell you about the new grant recipients and the science we will be supporting in 2025.We are always looking for ways to broaden our outreach to families living with glaucoma. We are delighted that our “Doctor, I Have a Question.” patient guide is now available on the TGF website in in both Spanish and Russian translation.The Foundation and I wish you and your loved ones a happy and healthy holiday season.Please remember us on Giving Tuesday, December 3rd. You are vital to all that we do! With appreciation,Elena Sturman
Newsletter November, 2024Doctor, I Have a Question.My eye doctor recently took images of my eye using dierent devices. What do they show?Question answered by Gustavo De Moraes, MD, PhD, MPHAssociate Professor of Clinical OphthalmologyColumbia University Irving Medical CenterChief Medical Ocer, Ora ClinicalClinicians have a range of tools to help diagnose glaucoma and measure its progression. Imaging devices are an important part of the toolbox. You probably had an OCT (optical coherence tomography) test, which allows us to measure the thickness of the dierent layers of the retina and optic nerve. Just as a sonogram uses sound waves to create three-dimensional pictures of soft tissues inside your body, OCT uses specic wavelengths of light that are projected into the eye. When that light reaches the tissues, it ashes back how thick they are, producing three-dimensional and, cross-sectional images.In glaucoma, the two most important tissue layers for imaging are the retinal nerve ber layer (RNFL) and the ganglion cell layer (GCL). The RNFL is comprised of axons of retinal ganglion cells – the cells that are damaged in glaucoma. The RNFL thins in step with the loss of retinal ganglion cells and their axons. Because these measurements are very precise, we can track changes over time to see if the patient is progressing or not. In addition to measuring thickness, in microns, the OCT technology also compares measurements of the patient being tested with a database of healthy people about the same age who don’t have glaucoma. (Green/healthy; Yellow/borderline; Red/ too thin/diseased.) Sometimes, OCT images will indicate conditions other than glaucoma, such as a retina problem, and sometimes thinning over time may be the natural result of aging and not a reason to change treatment. Then the doctor has to rely on subjective experience and training and other tools – slit lamp exam of the optic nerve, visual elds, risk factors, and fundus photos, for example, to help interpret those ndings.In a small number of cases, the quality of the OCT may not be clear. For example, the machine will not be able to delineate those layers if the patient has signicant cataracts or corneal haze. Another long-standing imaging tool is a Fundus photo. The fundus is the inside surface of the back of the eye. Fundus photos of the retina and optic nerve were used extensively before OCT was developed and are still used a lot today as part of a regular eye exam. Several optical coherence tomography (OCT) devices include color fundus photography capability. With a picture, you can always go back and make an evaluation – fundus photos can tell us more about glaucoma over time. Two photos taken at dierent time points can be compared side by side to assess progression. Imaging aids the diagnosis and monitoring of glaucoma by providing objective documentation and measurements. Recent advances in technology make OCT an indispensable tool in everyday practice.
Newsletter November, 2024While the toolbox is growing, in the end they still require the doctor to interpret the results. But they already certainly help a lot. The future is with AI which will use those instruments to actually give us a ‘yes’ or ‘no’ diagnosis.LIVING WITH GLAUCOMANew Roles for Hillary A. GoldenAPUP Patient ModeratorHillary A. Golden, a glaucoma patient proled in the November 2022 TGF newsletter, has been named as the new Patient Moderator for TGF’s online support group, APUP (Adult Patients Under Pressure), which has over 2,0000 members.In her prole, Golden spoke about being diagnosed with severe normal tension glaucoma in July 2020 and since then learning as much as possible about glaucoma while advocating for patients.Hillary has been in medical sales her entire career and in 2021 she began selling surgical devices for glaucoma. “I became more involved by talking to Glaucoma Specialists all day for work. I continued researching my condition and made contact with doctors across the globe. I was driven to help patients.” Hillary stated, “Sometimes we are gifted with a challenge because we are the exact right person to rise to the occasion. Understanding the gift is the rst step. Sharing it is where the magic happens.”Now, she has taken that energy combined with what she’s learned to advocate for other glaucoma patients. All the while she’s doing whatever she can to preserve her own vision. “Losing almost 40 percent of your vision is a very scary thing. I am a big proponent of patient support groups like APUP”, she says.“Patients may be more comfortable talking to others who have faced similar challenges and who understand. A glaucoma diagnosis elicits so many questions and sometimes there’s not enough time for them in a busy doctor’s oce. I am monitoring messages in the APUP group and I jump in when I can help or add clarity. I provide a patient’s perspective so when the questions require a clinician Dr. Aakriti Shukla, a member of TGF’s Medical Advisory Board, will join the conversation and respond.Glaucoma CoachHillary’s career today is wholly patient-centric. She started her own business, Glaucoma Coach, where she works as a Keynote Speaker, a Patient Advocacy Consultant, and a one-on-one Patient Coach.“There is a huge gap between the patient, the doctor, and the companies that oer pharmaceutical and surgical options for glaucoma. I am working to ll that gap. I consult with ophthalmology companies to help them earn the trust of patients. In my medical sales career, we had doctors train us on the products
Newsletter November, 2024we were selling but never had patients come and give their perspectives. Learning what it’s like to live with a disease on a daily basis, the treatment plan, side eects, and more are crucial to understanding what it’s like to be a patient.”Hillary is challenging the role of patient advocacy in ophthalmology and those she has worked with denitely feel it lls a need. As one patient wrote, “She is such a beacon of hope and positivity, and her technical knowledge of glaucoma is the icing on the cake.” THE STATE OF GENETIC TESTING FOR GLAUCOMAWhen Dr. Janey Wiggs gave a presentation on Genetics and Glaucoma at last summer’s TGF Symposium, she spoke about genetics as a tool we should be using hand in hand with all our other clinical tools. “Glaucoma is actually one of the most heritable of all human conditions,” she explained. “The genetics are so strong for the disease that we can capitalize on this association.”Dr. Wiggs is a physician-scientist at the Massachusetts Eye and Ear Inrmary and Harvard Medical School. She is currently the Paul Austin Chandler Professor of Ophthalmology at Harvard Medical School.ln September, in a TGF webinar, Dr. Wiggs spoke further about the state of genetic testing for glaucoma. “We want to nd the genes we can use for genetic testing so that we can identify people who are at high risk for glaucoma early,” she said. “It’s really important to know what the disease is before it becomes manifest because nothing can be done about bringing back vision that is lost.”Dr. Wiggs spoke about both early and adult-onset glaucoma. There are currently 12 genes that are known to cause early-onset conditions, like congenital glaucoma, which is usually present in children and caused by rare mutations in genes that have very large eects. As a result, those mutations are transmitted in families and testing can be very important because everyone in the family who has this mutation can be identied and treatment can begin at very early stages of the disease.Adult-onset glaucoma, the most common form, has a more complex inheritance. While more than 100 genetic variants are known, there are many more.Testing for a single mutation doesn’t give much information. “Instead, we test a number of variants and then just calculate how many variants an individual has to determine their risk score,” Dr. Wiggs explained.Some people are going to have a lot of those variants and they’re going to be in the 90th percentile. Others are going to have just a few and they are going to be in the bottom of that distribution. A lot of people are in the middle.And according to Dr. Wiggs, people with the most risk variants are the ones with the highest risk for the disease, as compared to those in the lowest distribution.
Dr. Wiggs and Dr. Louis Pasquale at Mt. Sinai in New York came up with an idea to evaluate the impact of these scores for POAG – the most common form of glaucoma--among a very large number of people from the Mass General and Brigham Biobank and also from Mt. Sinai. “We identied the people who were in the top risk and bottom risk tiers and invited them into the clinic at both hospitals for a comprehensive exam,” said Dr. Wiggs.The striking result was that people in the high polygenic risk group were 35 percent more likely to have glaucoma compared to 10 percent in the lowest risk group. Most exciting and important, she noted, was that 50 percent of these individuals from the high-risk group diagnosed with glaucoma were previously undiagnosed.“It’s been extremely exciting to have this kind of progress in the last 5 or 10 years,“ says Dr. Wiggs. “For example, the fact we can identify carriers of high-impact mutations in early-onset glaucoma allows for early surveillance and treatment. But there is still so much work to do to be able to oer comprehensive genetic testing for all of our patients.”What is the availability of genetic testing for glaucoma? Dr. Wiggs suggests that early-onset glaucoma patients under the age of 40 be tested. But genetic testing to ascertain high polygenic risk scores is really just coming into the clinical space. At this time “23 and Me” has a polygenic risk score test available for a fee.She adds that the glaucoma service at Mass Eye and Ear is developing a new genetic test for its glaucoma patients that will test for the early-onset glaucoma genes and the polygenic risk score at the same time. This will eventually become part of its glaucoma service.SIMON JOHN AWARDED SAVJANI GRANTSimon John, PhD, the Robert L. Burch III Professor of Ophthalmic Sciences at Columbia University and a recognized international leader in glaucoma research, has been awarded TGF’s named Savjani Grant for the year beginning November 1. The $150,000 one-year grant will be applied to his research on “Resilience Therapies for Neuroprotection and Regeneration.” He denes this work broadly as including protection of the ocular drainage tissues and lessening IOP elevation to harness resultant neuroprotective eects, which can also benet regeneration eorts. He expects to have data on the drainage tissues/IOP earlier along the path to testing neuroprotection and will use these measures to initially optimize dosing for the longer-term neuroprotection experiments.Newsletter November, 2024
Thank you for being a TGF newsletter reader.Let us know what’s on your mind.info@glaucomafoundation.orgCopyright © 2024 The Glaucoma Foundation, All rights reserved.You are receiving this email as a friend of The Glaucoma Foundation.Our mailing address is:The Glaucoma Foundation80 Maiden Lane, Suite 700New York, NY 10038Sta News!We’re delighted to announce that Andrea Steele has been promoted to the position of Chief Operating Ocer of The Glaucoma Foundation. Andrea has been with TGF for 9 years and we’re condent she’ll excel in this new role. As COO, she oversees all day-to-day business operations for the Foundation. She is also responsible for organizing the Think Tank, the yearly grant review cycles, webinars and all digital content for the website and social media. Congratulations, Andrea!