The diagnostic value of optical coherence tomography in idiopathic infantile nystagmus

Abstract Body:

Purpose: Infantile nystagmus presents with horizontal oscillations of the eyes within the first 6 months of life, and has a variety of causes. Traditional work up includes examination under anaesthesia or sedation to exclude anterior or posterior segment pathology, electrodiagnostics to investigate pathway function and MRI brain to exclude neuropathology. If all these examinations are found to be normal, infantile nystagmus has been considered idiopathic. Optical coherence tomography (OCT) is a newer technology, applicable in young children, which can identify subtle macular pathologies. The aim of this project is to quantify what percentage of a cohort of patients with previous diagnoses of infantile idiopathic nystagmus may have abnormalities on OCT that could lead to a revised diagnosis.

Study Design: Retrospective observational study

Methods: Review of cases notes was performed, as well as review of OCT scans by 2 independent examiners. Data was analyzed to ascertain what percentage of patients with a previous diagnosis of infantile idiopathic nystagmus had revised diagnoses on the basis of OCT findings. A secondary analysis included the percentage that had diagnoses of certain conditions including albinism, PAX6 gene mutations and achromatopsia.

Results: A demonstrable number of patients with previous diagnoses of idiopathic infantile nystagmus were found to have abnormalities on OCT imaging, not previously suspected on macular examination.

Conclusions: Given the number of cases identified with abnormalities on OCT imaging, we would recommend that handheld OCT is a routine part of work up in new cases of infantile nystagmus.