What is the appropriate evaluation and management for a newborn presenting with nystagmus?

Nystagmus in the Newborn: Evaluation and Management

Immediate Referral and Initial Classification

All newborns with nystagmus require immediate referral to a pediatric ophthalmologist at the time of detection, as this finding may indicate serious underlying ocular, neurological, or systemic pathology requiring urgent intervention. 1

The first critical step is determining whether the nystagmus is infantile (onset in first 6 months of life) or acquired (later onset), as this distinction fundamentally determines the diagnostic approach and urgency of evaluation 1, 2:

• Infantile nystagmus typically appears between 3-6 months of age and is most commonly associated with benign causes including idiopathic infantile nystagmus, albinism, retinal dystrophies, optic nerve hypoplasia, and congenital cataracts 3, 4
• Acquired nystagmus (onset after 4-6 months) mandates urgent neuroimaging to exclude serious CNS pathology including tumors, Chiari malformation, and demyelinating disease 1, 5

Comprehensive Ophthalmologic Evaluation

The pediatric ophthalmologist should perform a thorough examination looking for specific diagnostic features 1, 2:

• Cycloplegic refraction to identify and correct even minor refractive errors, as these can significantly impact visual development 1, 6
• Fundoscopic examination for retinal dystrophies, optic nerve hypoplasia, chorioretinal colobomas involving the macula, and signs of albinism 7, 3
• Assessment for structural abnormalities including congenital cataracts, aniridia, and anterior segment dysgenesis 7, 3
• Evaluation of head posture to identify if the infant uses compensatory positioning to dampen nystagmus amplitude 1, 2
• Binocular visual acuity testing when age-appropriate, as monocular occlusion can increase latent nystagmus amplitude and artificially worsen measurements 7, 8

Red Flags Requiring Urgent Neuroimaging

Certain nystagmus patterns definitively indicate serious CNS pathology and require immediate MRI of the brain 1, 2:

• Downbeat nystagmus strongly suggests cerebellar or cervicomedullary junction pathology 1, 2
• Direction-changing nystagmus without head position changes indicates central pathology 1, 2
• Gaze-evoked nystagmus definitively indicates brainstem or cerebellar pathology 1, 2
• Unilateral or asymmetric nystagmus suggests focal structural lesions including anterior visual pathway tumors 5, 3
• Onset after 4 months of age with nystagmus characteristics resembling infantile forms should raise suspicion for brain tumor 5, 9

Neuroimaging Protocol

When neuroimaging is indicated, MRI of the brain without and with IV contrast is the imaging modality of choice 7, 1, 2:

• MRI reveals abnormal intracranial findings in 15.5% of children with isolated nystagmus, including abnormal T2 hyperintense signal in white matter (4%), Chiari 1 malformation (3.4%), and optic pathway glioma (2%) 7, 2
• MRI head and orbits may be obtained concurrently for comprehensive evaluation of both intracranial and intraorbital structures 7, 2
• IV contrast is not required in all cases but should be added if a suspicious lesion is identified on initial sequences 7, 2
• CT imaging has no role in nystagmus evaluation and provides inferior soft tissue detail compared to MRI 7, 1, 2

Electrophysiologic Testing

Visual electrophysiology (electroretinography) is essential when the ophthalmologic examination appears normal, as it identifies retinal dystrophies and other sensory defects that may not have obvious fundoscopic findings early in life 4:

• Electrophysiology should be performed early in the diagnostic pathway, particularly in infants without diagnostic ocular findings 4
• This testing is critical because 48% of infantile nystagmus cases are due to sensory defects, many of which require electrophysiology for diagnosis 4

Specific Clinical Scenarios

Spasmus Nutans

This rare form presents with the triad of nystagmus, head bobbing, and torticollis, typically appearing at 1-3 years of age 7, 2:

• Critical pitfall: Spasmus nutans cannot be easily differentiated from nystagmus associated with anterior visual pathway tumors based on clinical features alone 7
• All cases require MRI to exclude optic pathway gliomas and other structural lesions 7, 1, 2

Latent/Manifest-Latent Nystagmus

This form is part of the infantile esotropia syndrome and shows horizontal jerk oscillations that worsen with monocular viewing 7, 2:

• Document the preferred head posture, as children often hold the fixating eye in adduction 1
• Distinguish from nystagmus blockage syndrome, where children use excessive convergence to damp nystagmus amplitude and the esotropia magnitude increases with prism neutralization 2

Neurological Nystagmus

In infants with neurological abnormalities or those with nystagmus but normal ophthalmologic examination, consider 4:

• Inborn errors of metabolism including leukodystrophies and mitochondrial diseases 2, 4
• White matter genetic disorders 4
• Brain malformations 4
• Hypoxic-ischemic encephalopathy affecting anterior or posterior visual pathways 8

Management Approach

For Infantile Nystagmus (Benign Forms)

• Correct all refractive errors with glasses or contact lenses, as even minor errors should be addressed 1, 6
• Provide prompt referral for low-vision rehabilitation services, as early intervention significantly impacts neurodevelopmental outcomes 7, 8
• Reassure parents that sitting close to the television or holding objects close does not harm the eyes 7
• Consider eye muscle surgery (Anderson or Kestenbaum procedure) at age 6-8 years if significant compensatory head posture develops 3, 6

For Acquired Nystagmus

• Treat identified structural lesions including tumors, Chiari malformation, and demyelinating plaques based on neurosurgical and neurological consultation 1
• Address underlying metabolic or genetic disorders with appropriate subspecialty management 2, 4

Critical Pitfalls to Avoid

• Do not delay referral even for "mild" nystagmus, as 15.5% have serious intracranial findings and early intervention improves outcomes 7, 2, 8
• Do not assume all nystagmus in high-risk infants (e.g., those with hypoxic-ischemic encephalopathy) is solely due to the initial insult, as 3.4% have Chiari malformation and 2% have optic pathway gliomas requiring specific treatment 8
• Do not confuse spasmus nutans with benign infantile nystagmus without obtaining MRI, as anterior visual pathway tumors can present identically 7, 1, 2
• Do not use CT imaging for nystagmus evaluation, as it has no role and exposes the infant to unnecessary radiation 7, 1, 2
• Do not rely on monocular visual acuity testing alone in children with nystagmus, as occlusion can worsen latent components and underestimate true visual function 7, 8