Supranuclear eye movements and nystagmus in children: A review of the literature and guide to clinical examination, interpretation of findings and age-appropriate norms

Abstract

Abnormal eye movements in children, including nystagmus, present a significant challenge to ophthalmologists and other healthcare professionals. Similarly, examination of supranuclear eye movements and nystagmus in children and interpretation of any resulting clinical signs can seem very complex. A structured assessment is often lacking although in many cases, simple clinical observations, combined with a basic understanding of the underlying neurology, can hold the key to clinical diagnosis. As the range of underlying diagnoses for children with abnormal eye movements is broad, recognising clinical patterns and understanding their neurological basis is also imperative for ongoing management. Here, we present a review and best practice guide for a structured, methodical clinical examination of supranuclear eye movements and nystagmus in children, a guide to clinical interpretation and age-appropriate norms. We also detail the more common specific clinical findings and how they should be interpreted and used to guide further management. In summary, this review will encourage clinicians to combine a structured assessment and a logical interpretation of the resulting clinical signs, in order to recognise patterns of presentation and avoid unnecessary investigations and protracted delays in diagnosis and clinical care.

A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping

“…Ocular albinism (OA) is a form of albinism in which the clinical features are constrained to the eye, whilst oculocutaneous albinism (OCA) encompasses a broader phenotypic range affecting the eyes, hair and skin 4 . The ocular manifestations of OCA and OA include infantile nystagmus syndrome (INS) 5 , foveal hypoplasia, abnormal crossing pattern at the optic chiasm and iris transillumination defects 6 all of which can be subtle or incomplete 7 . Additionally, many of the ocular features seen in albinism can be seen in other disorders caused by mutations in genes that are not associated with melanin biosynthesis such as PAX6 mutations, which can cause a variety of ocular phenotypes including nystagmus and foveal hypoplasia 8 .…”

Management of nystagmus in children: a review of the literature and current practice in UK specialist services

“…Orthoptic examination of all children presenting with nystagmus is essential, not only for the comprehensive assessment of visual function and VA throughout the critical period of visual development, but also for investigation of ocular alignment and binocular vision [ 5 ]. This is required due to increased prevalence of strabismus in the presence of childhood nystagmus, reported as between 16 and 52% [ 6 , 7 ].…”

“…• Smooth pursuit—horizontal and vertical. • (For detail of methods of testing, see Osborne et al [ 5 ]). Convergence • With refractive correction with AHP—noting ability to convergence and change in amplitude and/or frequency of nystagmus.…”

“…For a more detailed, practical description of how to examine nystagmus and other supranuclear eye movements in children (and interpret findings), see [ 5 ].…”

Arguments for the Adoption of a Nystagmus Care Pathway

“…If eye movement recording is not available, the use of the diagrammatic representation of ocular movements in the nine cardinal positions can be useful. However, such diagrams must be able to depict torsional(rotary) and circumrotatory nystagmus's, as well as the more common jerk and pendular types, including combinations of more than one type (Osborne et al 2019). It should be recognised that these diagrams rarely identify the type of nystagmus.…”