Fast Five Quiz: Management of Inherited Retinal Diseases

Donny W. Suh, MD, MBA; Raj K. Maturi, MD


March 31, 2023

The treatment options available to patients with IRD are limited. However, numerous clinical trials are currenting investigating possible agents that target specific genes. Genetic testing plays an important role in accurately identifying specific mutations, enabling patients with an IRD to participate in clinical trials. In addition, genetic counseling enables patients and families to discuss the impact of the diagnosis and provides a clear understanding of how the results will affect their immediate and future care.

The progressive vision loss that accompanies most IRDs can have a substantial impact on patient and caregivers' quality of life. A multidisciplinary approach can educate patients and provide a clear understanding of what to expect after the diagnosis of IRD. In addition, encouraging low-vision rehabilitation and support groups may be beneficial to patients. Coping strategies are a key factor in adapting to the challenges that accompany living with an IRD.

Currently, there are no approved RNA-based therapies for IRDs. Three investigational RNA-based therapies for IRDs are in phase 1/2 and phase 2/3 clinical trials: sepofarsen, ultevursen, and QR-1123. Early data from clinical trials of these agents has been promising. When a disease causing gene mutation is identified, searching for recruiting studies for that specific mutation can be of service to the patient.

Learn more about inherited retinal diseases.


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