Jun 1, 2021

The Importance of Genetic Testing in Inherited Retinal Diseases (IRDs)


By Dr. Joshua Mali

Recently, I was watching a movie with my wife in which the plot revolved around the idea of futuristic medical technology and therapies including gene-targeted treatments. While most of it seemed far-fetched at best, there were some aspects that seemed not only feasible but actually being utilized in medicine today. With this as the backdrop, I have been encouraged as a retinal specialist with all the excitement and promising new treatments in gene therapy. Given that there are several retinal diseases with known inherited patterns and confirmed genetic loci responsible for the clinical manifestations, our field is primed to benefit from the expansion of knowledge in this arena. With the advent of genetic testing for inherited retinal diseases (IRDs), this has provided another tool in our tool-belt to help provide the most advanced care for our patients. The benefits of genetic testing include confirming clinical diagnosis to identify genetic disorders with systemic associations, provide information for family members, and potentially identifying patients that can benefit from gene targeted therapies.

According to the American Academy of Ophthalmology (AAO), genetic testing is appropriate for most patients with presumed genetically caused retinal degeneration and plays an important role in improving the accuracy of diagnosis and prognosis, providing patients and families with specific inheritance risks, and guiding treatment decisions. Typically, panels include identifying genes in which mutations have been found to cause certain early-onset, rod-mediated IRDs. For example, inherited retinal diseases like Retinitis Pigmentosa (RP), Choroideremia (CHM), and Leber Congenital Amaurosis (LCA) are important to confirm genetically. Overall, I encourage all retinal specialists across our great country who take care of patients with suspected inherited retinal diseases (RP, CHM, and LCA) to join me and take advantage of our great technological advances like genetic testing. The future of ophthalmology is here with genetic testing and gene therapies and we have the ability to lead the field of medicine in this final frontier. It is truly an honor for me to be able to provide the highest quality of healthcare for my patients and provide them with the most cutting-edge diagnostics and treatments available today.

Joshua Mali, MD, is a board-certified ophthalmologist and award-winning vitreoretinal surgeon at The Eye Associates, a private multi-specialty ophthalmology practice in Sarasota, Florida. He is the Retina Medical Director of the Macular Degeneration Association (MDA).

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