The challenges faced by clinicians diagnosing and treating infantile nystagmus Part I: diagnosis

Introduction: Infantile nystagmus syndrome (INS) consists of involuntary oscillation of the eyes, that usually develop within the first months of life. INS can be idiopathic or associated with albinism, retinal dystrophies, low vision, or it can be part of syndromes and neurological disorders. Due to the variety of etiologies and clinical presentations, clinicians often face challenges in the diagnostic workup of INS, and patients often undergo numerous investigations. Areas covered: This review will address approaches to improve the diagnosis of children with INS, and provide the best clinical care and future opportunities for affected children. We will discuss updates on clinical assessment, laboratory investigations, and strategies to advance the diagnosis and monitoring of INS using advanced ophthalmic imaging, diagnostic equipment, and genetic testing. Expert opinion: Recent advances in pediatric retinal imaging, by means of handheld optical coherence tomography, provide detailed assessment of foveal structure in several pediatric eye conditions associated with nystagmus, and it can be used to determine the ocular abnormalities of infantile nystagmus. Additionally, the identification of new genes has greatly enhanced our understanding of INS and facilitate early diagnosis and management.