Four Ocular Abnormalities Not to Overlook in Children

Brianne N. Hobbs, OD


January 17, 2019

In This Article

Because the visual system is still developing in children, the consequences of missing ocular or vision abnormalities in these patients are profound, possibly resulting in a lifetime of disability. Even a subtle ocular sign can be the initial manifestation of a life-threatening diagnosis, such as retinoblastoma, so knowledge of the associated signs of these conditions is critical.

Clinicians therefore must be able to detect several critical ocular signs when evaluating children. To help guide that process, this article discusses four ocular signs that cannot be overlooked in the pediatric population.

Acquired Nystagmus

Nystagmus has many forms, but the hallmark characteristic is rhythmic oscillations of the eye that may be horizontal, vertical, or torsional. The two major forms of nystagmus are congenital and acquired.

Most congenital forms present between 6 weeks and 6 months of age. Congenital nystagmus is typically horizontal and bilateral, as shown in the Video.

Video. Congenital nystagmus is present in all gazes but is most pronounced in left gaze. The null point in this patient is in upgaze. The nystagmus is horizontal and bilateral, all qualities typical of congenital nystagmus. Video courtesy of Matthew Roe, OD.

Congenital nystagmus may be associated with systemic conditions, such as albinism, optic nerve hypoplasia, and Leber congenital amaurosis. Patients may adopt a head tilt to achieve the null point of the nystagmus and maximize visual function.

Acquired nystagmus must be addressed urgently, because many of the possible etiologies are life-threatening. Space-occupying lesions affecting the central nervous system, such as optic nerve gliomas and craniopharyngiomas, may result in acquired nystagmus. New-onset nystagmus that is unilateral or asymmetric is especially concerning for central nervous system involvement. The presence of an afferent pupillary defect with an acquired nystagmus warrants emergent referral.

Unlike congenital nystagmus, acquired nystagmus may be associated with oscillopsia. Older children may be able to verbalize the symptom of oscillopsia, but in younger children, difficulties with balance or coordination may indicate oscillopsia.

Acquired nystagmus is concerning, but it can also be caused by medications. Anticonvulsant medications can cause acquired nystagmus, especially if the nystagmus is only present in upgaze.

Extraocular muscle testing should be performed to determine the direction of the nystagmus to aid in greater specificity in neuroimaging. The cerebellum and the cervicomedullary junction should be carefully evaluated in neuroimaging studies, because abnormalities in these areas are often linked to acquired nystagmus.

Key Factors

  • Concerning diagnoses: Intracranial tumor, neuroblastoma, encephalitis

  • History: Onset, medications (specifically anticonvulsants), perceived movement by patient

  • Examination: Assessment of extraocular muscles and determination of the direction of nystagmus

  • Management: Referral to a neuro-ophthalmologist is appropriate in most cases of acquired nystagmus


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