Modernizing the evaluation of infantile nystagmus: the role of handheld optical coherence tomography

Background Infantile nystagmus syndrome can be associated with an afferent problem (anterior or posterior segment) or constitute an isolated idiopathic disorder. With a normal ophthalmic examination, current guidelines recommend electroretinography (ERG) rather than magnetic resonance (MRI) for preliminary workup. Given the limited use of optical coherence tomography (OCT) in preverbal children, the purpose of this study was to evaluate the role of handheld OCT (HH-OCT) in the initial diagnostic evaluation of infantile nystagmus. Methods In this cross-sectional case series, the medical records of all children with infantile nystagmus and HH-OCT imaging at the Duke Eye Center from August 2016 to July 2021 were retrospectively reviewed. Children with anterior segment disorders or obvious retina/optic nerve structural pathology, bilateral ophthalmoplegia, or Down syndrome were excluded. Two masked pediatric ophthalmologists graded HH-OCT images for optic nerve head and macular abnormalities. A neuro-ophthalmologist reviewed clinical findings of each patient’s presenting visit and recommended appropriate testing (MRI vs ERG), initially without, and again with HH-OCT image review. Results A total of 39 cases were included, with mean presenting age of 1.3 years. Final diagnoses included retinal or foveal abnormalities (7), optic nerve pathology (13), idiopathic (10), or unknown (9). HH-OCT findings included optic nerve hypoplasia (1), optic nerve elevation (3), persistence of the inner layers at the fovea (9), thin ganglion cell layer (8), ellipsoid zone abnormality (3), and thin choroid (1). HH-OCT findings altered initial clinical-only management in 16 cases (41%), including avoiding MRI (5) and ERG (10) testing. Conclusions Our results suggest that HH-OCT has the potential to augment and streamline the evaluation of infantile nystagmus.