REFRACTIVE EWAP JUNE 2022 15 Contact information Donnenfeld: ericdonnenfeld@gmail.com Yeu: eyeulin@gmail.com W ith keratoconus, it’s important to diagnose patients as early as possible in order to treat them before more drastic procedures, like a corneal transplant, might be needed. Crosslinking has aided in the early treatment of keratoconus, and the use of genetic testing is another tool for doctors to add to their armamentarium. Eric Donnenfeld, MD, and Elizabeth Yeu, MD, discussed AvaGen, a test from Avellino that can be used to assess genetic risk for keratoconus and other corneal dystrophies. Genetic testing is one of the newest topics in all of medicine, Dr. Donnenfeld said. Looking at genetic risk factors gives doctors a heads up on better management. Being able to tell if a patient is at risk for a disease allows physicians to diagnose and potentially start therapy earlier. “Keratoconus has been one of the most difficult diseases I½ve treated in the course of my career,” Dr. Donnenfeld said. “Now that we have genetic testing to go along with crosslinking, not only can we diagnose it sooner, but we can treat it sooner and prevent it from progressing.” Dr. 9eu finds genetic testing a great tool for keratoconus screening for a variety of The value of genetic testing for keratoconus by Ellen Stodola Editorial Co-Director patients, such as those in which refractive screenings are not straightforward and family members of known keratoconus patients. She uses this testing in about one of every four refractive screenings. Where does it fit into testing and treatment? Keratoconus is polygenic, meaning there are a lot of genetic variations, so you can’t just look at one gene type, Dr. Donnenfeld said. “You have to look at the entire genetic pool and correlate this with other risk factors. Having the genetic testing allows me to know who’s at risk to counsel them,” he said. When someone has keratoconus, family members are at increased risk. Testing siblings and children of keratoconus patients allows them to understand the risks associated with genetic predisposition and how they should be followed. ºI find it eÝtremely disconcerting when someone has had keratoconus for several years and the first time I see them, they½re ready for a corneal transplant,” Dr. Donnenfeld said. ºI want to diagnose these patients earlier before they get to this stage.” Dr. Donnenfeld said he is using genetic testing frequently, but he thinks that it is still being used primarily by corneal specialists at this point. ºI think it’s something that will be adopted by refractive surgeons who want to have a better understanding of the risks for patients,” he said. In addition to genetic testing, Dr. Donnenfeld uses a number of other tests for these patients. Everyone who comes in gets a topography and tomography. He looks at posterior cornea, corneal thickness, and corneal curvature, and he said that epithelial cell mapping is a new technique that physicians are using as well. Dr. Donnenfeld said he also looks at pachymetry maps. Crosslinking is an effective therapy, he said. ºIf you know someone is at risk and you follow them carefully and as soon as you see the first sign of development, treat right then, they can lead a normal life,» he said. If you don½t treat them, they could end up needing corneal transplants, have rejection, and are at risk for trauma. ºI think having a test that allows us to diagnose keratoconus earlier is very eÝciting,» Dr. Donnenfeld said. Though this is not an absolute indication for therapy, it provides more information to “steer me in the right direction and augments the other tests that I½ve been doing.” Understanding the inherent This article originally appeared in the April 2022 issue of EyeWorld. It has been slightly modified and appears here with permission from the ASCRS Ophthalmic Services Corp.
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