Abstract
Purpose :
Infantile Nystagmus syndrome is the most common nystagmus syndrome seen by pediatric ophthalmologists and can be secondary to an afferent problem (anterior or posterior segment) or an isolated idiopathic disorder. In the setting of an apparently normal ocular exam, current guidelines recommend electroretinography (ERG) rather than magnetic resonance (MRI) for preliminary work-up. Given the limited use of Optical Coherence Tomography (OCT) in preverbal children, its full usability in infantile nystagmus has not been appropriately explored. The purpose of this study was to evaluate the role of hand-held OCT (HH-OCT), in the initial diagnostic evaluation of infantile nystagmus.
Methods :
Cross-sectional retrospective series of all children with infantile nystagmus with HH-OCT imaging presenting to a single academic center from August 2016 - July 2021. Excluded were those with anterior segment disorders (cataract, aniridia, corneal opacity) or obvious retina/ optic nerve pathology (morning glory, colobomas), bilateral ophthalmoplegia, and Down Syndrome. Two masked pediatric ophthalmologists graded HH-OCT images for optic nerve head hypoplasia, optic nerve head elevation, persistence of inner retinal layers at the fovea, thin ganglion cell layer (GCL), ellipsoid zone (EZ) layer disruption, and thin choroid. Additionally, a masked neuro-ophthalmologist reviewed clinical findings of each patient’s initial visit and recommended appropriate work-up (MRI vs. ERG), first without HH-OCT review, and then again with.
Results :
Included were 40 cases of infantile nystagmus, with mean age 1.3 years at initial visit. Final diagnoses included retinal dystrophy (8), optic nerve disorders (13), idiopathic (15), or unknown (4). HH-OCT findings included optic nerve hypoplasia (1), optic nerve elevation (3), persistence of the inner layers at the fovea (9), thin GCL (8), EZ abnormality (3), and thin choroid (2). HH-OCT findings altered initial clinical-only management in 17 cases (42.5%), including avoiding MRI (4) and ERG (11) testing.
Conclusions :
HH-OCT, is a fast, non-invasive, clinic-based imaging modality which can augment and streamline the evaluation of infantile nystagmus.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.