A team of Duke Eye Center physicians has published an article in Retina Today examining the unique challenges children with inherited retinal diseases (IRDs) face in obtaining timely diagnoses, accessing genetic testing, and participating in emerging clinical trials. The article, “The Challenge of IRD in Children,” was authored by Angela S. Li, MD, Cesar Estrada-Puente, MD, Paula C. Morales, MD, and Ramiro Maldonado, MD.
The publication highlights how children with IRDs often experience significant delays in diagnosis due to nonspecific symptoms, difficulty communicating visual concerns, and limitations in current diagnostic tools. The authors also discuss evidence suggesting that some pediatric IRDs may progress more rapidly than their adult counterparts, underscoring the importance of early identification and specialized care.
In addition to outlining these challenges, the article showcases innovative approaches being developed at Duke to improve care for pediatric patients. These include advanced handheld imaging technologies and child-friendly retinal testing methods designed to improve disease detection and monitoring while reducing the need for anesthesia in young children.
The article also emphasizes the need for greater access to genetic testing, earlier referrals to IRD specialists, and the development of pediatric-friendly clinical trial endpoints. By raising awareness of these barriers and potential solutions, the authors hope to help improve outcomes for children living with inherited retinal diseases and support the continued growth of Duke's pediatric IRD program.