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A Rapidly Changing Horizon - Annual Report 2018

A Rapidly Changing Horizon

A Bold Future for UW’s Inherited retinal Degerneration Clinic

Upon arriving at UW–Madison and UW Health Eye Clinics in 2016, Dr. Kimberly Stepien knew exactly what she envisioned for her patients with inherited retinal degenerations: a patient-focused clinic specifically dedicated to providing inclusive care to individuals with genetic mutations that can result in vision loss or blindness. Expanding an already strong ocular genetics program at UW–Madison, Dr. Stepien, director of the adult IRD clinic and co-vice chair of clinical affairs, teamed up with Dr. Melanie Schmitt, director of the pediatric IRD clinic, to take their patient care experiences to the next level. The result is a focused team of subspecialists, genetic counselors, study coordinators, photographers, technicians and schedulers, all of whom work to provide patients with highly-individualized care for their inherited retinal degenerations.

“We aim to give our patients the best available information about their inherited disease(s). Often, individuals have been misdiagnosed or the technology or knowledge at the time of their initial diagnosis simply didn’t exist to give them the information and answers we can today. Many times, we can provide information that potentially impacts multiple generations in their families positively, giving them more control of their eye health in ways that just were not possible before.”

Dr. Kimberly Stepien

“We also take the time to understand how the patient’s vision changes affect their lives. Often, I will make referrals to low vision services and help them understand how lifestyle changes like eating healthy, avoiding extreme sunlight, and not smoking are especially important for them. Lastly, I like to update patients on the current research for their disease, and provide resources. It is truly an exciting time for IRDs, as we saw this past year the first FDA-approved treatment for an IRD. Hope goes a long way.”

“The pediatric patients and their families I work with benefit directly from having access to more information about their diagnosis. This personalized information provides additional support and learning resources to continue their own growth and development,” says Dr. Schmitt. “We’re having in-depth conversations and providing a prognosis that impacts how these kids move throughout their lives.”

“We aim to give our patients the best available information about their inherited disease(s),” says Stepien, “Often, individuals have been misdiagnosed or the technology or knowledge at the time of their initial diagnosis simply didn’t exist to give them the information and answers we can today. Many times, we can provide information that potentially impacts multiple generations in their families positively, giving them more control of their eye health in ways that just were not possible before.”

Patients and their families often begin their IRD experience with a two to three hour consultative appointment where a comprehensive ophthalmic exam is performed, ocular imaging is acquired, past medical and ocular history are discussed, and a family pedigree is documented. Patients also have the opportunity to meet with on-site genetic counselors, Elizabeth Kulom and Rachel Sullivan, to discuss genetic testing. If applicable, samples for genetic testing can be acquired during the same appointment. “We know how hard it is for visually impaired patients to travel to appointments so we strive to bring as many resources to their clinical experience as we can.” states Dr. Stepien.

The IRD clinic at UW–Madison provides opportunities for UW Health patients and referring clinicians to interact with one another, using specialized tools and technology to present relevant and actionable plans for patients. Since the clinic’s launch, a second genetic counselor was added to keep up with the service demand. Clinical trials to treat IRDs have increased largely in part to the efforts of both Drs. Stepien and Schmitt, along with committed team of study coordinators in the clinical trials unit, particularly Nickie Stangel. Several clinical trials dedicated to better understanding and treating IRDs are currently underway, including the first ocular gene therapy trial at UW–Madison aimed at treating choroideremia.

Future plans include expanding imaging capabilities – both clinically and in the operating room – in order to improve knowledge and treatment of IRD’s. The IRD clinic is working with UW Hospital to purchase an intra-operative OCT imaging device that would afford clinicians the capability to perform gene replacement procedures and stem cell therapies directly into the eye with image-guided, sub-retinal injections.

“The more we listen to our patients and their families, the better their care experience becomes – from basic information to the evolving research and treatments available, and to improving the facilities we provide care in. This is precisely why establishing this clinic was imperative for us. My patients inspire me, overcoming seemingly overwhelming obstacles every day due to their vision challenges. It drives me to create the best care experiences for them and we are all very proud to see it taking shape.”

Dr. Kimberly Stepien

WHAT IS AN INHERITED RETINAL DEGENERATION?

Inherited retinal degenerations (also called diseases or dystrophies)
are rare eye disorders that can result in vision loss or blindness and are caused by inherited genetic mutations. In most cases, patients experience progressive vision loss that can result in legal blindness. Common IRDs and retinal disorders include retinitis pigmentosa (RP), Stargardt disease and choroideremia (CHM). Being born with or experiencing vision loss in infancy or early childhood are common with several gene mutations associated with Leber congenital amaurosis (LCA).