Purpose: To characterize a large, international cohort of children with nystagmus.
Methods: Data were collected from a single-center, prospectively developed database on patients with nystagmus. Outcome variables for this study included: (1) demographic characteristics, (2) nystagmus type, (3) clinical characteristics, (4) associated ophthalmic conditions, (5) associated non-ophthalmic conditions, (6) special testing findings, and (7) treatments.
Results: Six hundred patients from 38 states and 30 countries were included. Age ranged from birth to younger than 18 years (mean: 15.2 years), 58% were female, 55% were race other than White, 75% had infantile nystagmus syndrome, 17% had neurologically significant nystagmus, 7% had fusion maldevelopment nystagmus syndrome, 64% had strabismus, 56% had an anomalous head posture, 94% had a significant refractive error, 64% had an associated ophthalmic abnormality (excluding ametropia), and 45% had an associated systemic condition. Special testing showed abnormalities in 67% and 95% had treatment directed at their nystagmus.
Conclusions: The most common diagnosis in this cohort is neurologically non-significant infantile nystagmus syndrome. Eye movement recordings provide a path toward accurate diagnosis and classification. There was a high prevalence of underlying ocular and/or systemic conditions requiring ophthalmic special testing as part of a diagnostic routine. Clinical treatments are available to most patients. [J Pediatr Ophthalmol Strabismus. 2023;60(6):406-410.].