Genetic findings in paediatric patients with nystagmus

Nystagmus, a condition characterized by involuntary eye movements, can be classified into two primary categories: infantile nystagmus (IN) and acquired nystagmus. IN typically manifests within the first 3‐6 months of life and can be idiopathic or associated with various ocular conditions, including inherited retinal dystrophies (IRD), albinism, or congenital cataracts. Acquired nystagmus appears later in life.Diagnostic approaches for nystagmus involve comprehensive eye examinations, including optical coherence tomography (OCT), and electrophysiology testing to differentiate underlying ocular diseases. The advent of new medical devices allows for detailed recording of eye movements, capturing data on gaze positions, amplitude, frequency, intensity, phase speed, and other parameters, thereby enhancing diagnosis and management.Recent advancements in genetics have significantly impacted the diagnostic process for nystagmus. Genetic testing is increasingly recognized as a crucial component, especially given the development of gene therapies for ocular conditions. We advocate for the routine use of genetic testing in paediatric patients with nystagmus to achieve definitive diagnoses and inform treatment strategies.This study presents a retrospective review of paediatric nystagmus cases referred to our Genetics Department from January 1, 2020, to January 1, 2024. Our findings indicate a significant increase in molecular diagnostic rates following clinical phenotyping.Genetic testing is instrumental in the diagnosis and management of paediatric nystagmus, particularly in the context of ongoing advancements in gene therapy for IRDs.