summer 2018 scheie vision Department of Opthalmology Like Watching a Miracle: From Landmark Gene Therapy to the Stage of America’s Got Talent IN THIS ISSUE A MESSAGE FROM THE CHAIR Dear Friends, VISION Penn Medicine’s Department of Ophthalmology, Scheie Eye Institute, is dedicated to cutting edge research, 02 Like Watching a Miracle providing the highest quality of care in Philadelphia and around the world, and training the next generation 04 Landmark FDA Approval of ophthalmologists. Our faculty and staff strive to cultivate an environment of continued learning and 08 Studying Individual Photoreceptors mentoring, where young minds with great potential grow and thrive. Our alumni go on to lead impactful 10 Intraocular Bleeding from careers, maintaining relationships with peers and mentors and returning to the Annual Alumni Meeting Blood Clot Meds? each spring. This event is always a reminder of the outstanding accomplishments of Scheie’s alumni, 11 New Options for Dry Eye students, staff, and faculty, and their daily commitment to improving the lives of patients and colleagues. This issue of Scheie Vision covers the people behind SCHEIE COMMUNITY Scheie’s advances and mission of excellence. We 13 Beautiful Inside and Out feature Lang Lourng Ung, an ophthalmic technician who brings inspirational resilience and passion to working with patients; Sonul Mehta, MD, who travels 15 Faces of Scheie around the world to provide ophthalmic care in underserved communities; Jessica Morgan, PhD, whose 19 Eye Care Across the World research on photoreceptor function has tremendous implications for the diagnosis and treatment of retinal 20 Remembering Walker Kirby disease; and Jean Bennett, MD, PhD, and Al Maguire, MD, who have demonstrated unwavering commitment for over 25 years to making it possible for blind 21 144th Anniversary Weekend children to see. This issue also honors the memory of two more ALUMNI remarkable individuals who are no longer with us: Laura Ball, a beloved administrative assistant in the 18 Alumni Spotlight glaucoma service and close friend to many of Scheie’s staff and faculty, and Walker Kirby, a generous donor and friend to the Scheie Eye Institute for many years. 22 Alumni President Laura and Walker touched many lives, including my own, and I will always cherish their memories and countless contributions to this Department. CONTRIBUTORS I would like to express my gratitude for the Managing Editors and Writers: Rebecca Salowe, extraordinary individuals who make Scheie exceptional Ava Kikut, Emma Wells Editor: Benjamin Kim, MD in all its missions. It is our colleagues, students, and Art Director: Sai Merriam patients who bring true joy and fulfillment to this Designer: Caren Goldstein work, and who make possible the common vision of Photographer: Brian Holmes excellence we all share. I hope you enjoy flipping Cover design: Sai Merriam through these pages and reading their stories. If you would like to add/remove your name from this mailing list, or have any questions or comments, please Wishing you all a happy and healthy summer! email [email protected] or call 215.662.8415. Joan O’Brien, MD 2 Christian Guardino performs on America’s Got Talent in 2017, four years after participating in the Phase III clinical trial for gene therapy. Photo credit: Trae Patton/NBC/NBCU Photo Bank/Getty Images. Like Watching a By Ava Kikut MiracleBy Ava Kikut It was a summer evening in 2013. “What’re you doing buddy?” The explained the delay to the audience. The audience was waiting to hear host had found Christian backstage. “There wasn’t a dry eye in the Christian Guardino sing. The host “I’m looking at the moon,” house,” remembered Christian’s called his name a first time, and Christian replied. mother, Beth Guardino. then a second time. But Christian “You’ve never seen the moon didn’t go onstage. He stood still, before?” Christian was diagnosed with mesmerized by something he had “Nope.” Leber’s Congenital Amaurosis never seen before—a white ball in (LCA), a rare retinal degeneration, the night sky. When the host returned to the as an infant. “They didn’t really stage with Christian behind him, he know what genes were causing 3 LCA at that point,” explained Beth. she learned about an upcoming seen the moon for the first time. “We were told that he had the type conference in Philadelphia. It When he returned to school that of LCA that would either slightly was at this conference that the fall, Christian could recognize improve with age or remain stable.” Guardinos confirmed they had been people as they waved at him in misinformed when Christian was the hallway. His experience in the Christian’s limited vision posed first diagnosed. Christian’s vision classroom also improved. “I’ve been a number of challenges as he was not only declining; it was likely able actually to see the whiteboard entered school. He struggled to to deteriorate completely. Without much better,” he said. Christian, recognize faces of friends waving intervention, he would be blind who graduated from high school in at him in the hallway, and he often between the ages of 15 and 30. the spring of 2018, is now taking worried others would think he was time to focus on his singing career antisocial. “I don’t think the sighted But there was hope. The Guardinos before going to college for music world really understands the met Dr. Jean Bennett and learned or film. communication issues that happen of a clinical trial for a treatment when you’re not fully sighted,” targeting a specific genetic While Christian’s limited vision said Beth. mutation—RPE65. If Christian’s never deterred him from singing, LCA was caused by an RPE65 the improvements to his sight since In the classroom, despite always mutation, he would be eligible for the gene therapy have given him sitting in the front row, Christian the clinical trial, and his vision more freedom onstage. Beth noted, could not read the writing on the could potentially be saved by gene “Before he would have to be led board. “It was really tough for me to therapy. During the conference, onstage to perform because it was see and properly learn,” he recalled. Christian underwent genetic testing. too difficult for him to see. Now he Christian was especially sensitive just walks right out there and does to noise, and found it difficult to In March 2013, just before his thing. It’s made a huge change concentrate on the teacher’s voice Christian’s 13th birthday, the in his confidence.” when there were other sounds in conclusive report came from the the room. Teachers did not always lab. Christian did indeed have the In 2014, Christian became the understand why he was distracted. RPE65 mutation, qualifying him Grand Prize Champion at the “I feel like they would seem to for the gene therapy trial. The Apollo Theater’s “Amateur Night get both annoyed and confused,” treatment was scheduled during at the Apollo Stars of Tomorrow” he said. summer break three months later. category. In 2016, he sang the national anthem at the NY Islanders Beth made efforts to explain Christian was eager to take part playoff game. That same year he Christian’s visual behaviors to in the trial. “I wanted to stop that performed a duet with Jordin teachers at the beginning of each inevitable blindness. That was my Sparks for Michelle Obama’s “Fit school year, but misunderstandings main goal,” he said. But when he 2 Celebrate” Gala. And in 2017, continued to arise. “I think that was woke up from the surgery in June Christian stunned the audience more of a struggle than his peers,” 2013, he realized the procedure did and judges of America’s Got Talent, she said. “We would continually much more for his vision than he earning the Golden Buzzer from hear how distracted he was. had expected. “It was crazy because Howie Mandel. Christian was Christian was such a great student I already saw results as soon as I named Youth National Champion and very respectful, so that was woke up from the gene therapy. I by the Children’s Miracle Network hard for us.” remember waking up in a really Hospitals and a Vision Hero by the dark room and I looked over to Vision of Children Foundation. When Christian was eleven, Beth my left and there was this little He is currently working on a noticed he was having more lamp light. And one of the tech project with Grammy nominated difficulty than usual recognizing coordinators there, her name was songwriter Sacha Skarbek. people and objects. Despite having Dominque, and I said, Dominique been assured that Christian’s is that you? And it was her. And I “It’s been a dream come true,” vision would remain stable, Beth would never have been able to see Christian said. Beth added, “To go was certain it was declining. She in a room that dark.” from thinking your child would decided to do more research. never see your face to where we Just a couple weeks later, Christian are now…it’s literally like watching Through a Facebook search, found himself performing on a miracle. That’s exactly what it is.” Beth found a support group for an outdoor stage in front of an LCA patients and families, and emotional audience, having just Photo credit: Peggy Peterson The Team Making Blind Kids See SCHEIE PHYSICIANS RECEIVE FDA APPROVAL FOR LUXTURNA, THE FIRST GENE THERAPY FOR AN INHERITED DISEASE By Rebecca Salowe and Emma Wells Children born with Leber’s Maguire have dedicated their careers husband, Dr. Maguire, working Congenital Amaurosis (LCA) are to the belief that a single genetic over a cadaver in anatomy lab.