Where should a 10-year-old with nystagmus be referred for evaluation and treatment?

Referral for a 10-Year-Old with Nystagmus

A 10-year-old child with nystagmus should be referred to a pediatric ophthalmologist for evaluation and management, with concurrent neuroimaging (MRI of the head) to rule out intracranial pathology. 1

Primary Referral Pathway

Pediatric Ophthalmologist Referral

According to the American Academy of Pediatrics guidelines, children with nystagmus should be preferably managed by a pediatric ophthalmologist, particularly:

• Children with early-onset nystagmus
• Those with accompanying visual symptoms or abnormalities 1

A pediatric ophthalmologist has completed:

• A residency in ophthalmology
• Certification by the American Board of Ophthalmologic Surgery
• At least 1 additional year of training in pediatric ophthalmology 1

Neuroimaging Evaluation

MRI of the head without and with IV contrast is recommended as the initial imaging modality for children with nystagmus, especially in cases of:

• Late onset nystagmus
• Concurrent neurological symptoms
• Decreased visual acuity
• Asymmetric/unilateral or progressive nystagmus 1

A retrospective review found that 15.5% of children who underwent MRI for isolated nystagmus had abnormal intracranial findings, including:

• Abnormal white matter signal (4%)
• Chiari 1 malformation (3.4%)
• Optic pathway glioma (2%) 1

Classification and Evaluation Considerations

Types of Nystagmus in Children

1. Infantile nystagmus (onset in first 6 months of life)

   • Most common causes: albinism, retinal disease, low vision, congenital cataracts
   • Typically diagnosed with clinical ophthalmological examination and genetic workup 1

2. Acquired nystagmus (later onset)

   • May be caused by anterior optic pathway lesions, brainstem/cerebellar lesions, or metabolic diseases
   • Requires more extensive neuroimaging 1, 2

Alarming Signs Requiring Urgent Evaluation

• Onset after 4 months of age
• Oscillopsia (subjective sensation of visual world movement)
• Dissociated (asymmetric) nystagmus
• Preserved opto-kinetic nystagmus
• Afferent pupillary defect
• Papilledema
• Associated neurological symptoms like vertigo and nausea 2

Special Considerations for Visual Assessment

When evaluating a child with nystagmus:

• Assess both monocular and binocular visual acuity
• Measure binocular near acuity at 40 cm and at the child's preferred reading distance
• Use linear or crowded optotypes for visual acuity testing
• Consider that monocular occlusion can increase nystagmus amplitude 1

Management Approach

After initial evaluation by a pediatric ophthalmologist and appropriate neuroimaging, management options may include:

1. Optical interventions

   • Correction of refractive errors
   • Magnifying visual aids 3

2. Pharmacological treatments (for specific types of nystagmus)

   • Gabapentin
   • Baclofen
   • Memantine 4

3. Surgical options

   • Eye muscle surgery for patients with head turn (typically at age 6-8 years) 2

4. Rehabilitation services

   • Low-vision rehabilitation is essential for children with visual impairment from nystagmus 1

Common Pitfalls to Avoid

1. Delayed referral: Nystagmus requires prompt evaluation to identify potentially treatable causes
2. Inadequate imaging: CT scans are not recommended for initial evaluation of nystagmus; MRI is preferred 1
3. Missing systemic associations: Nystagmus may be associated with systemic syndromes requiring multidisciplinary care
4. Overlooking psychosocial impact: The condition affects a person throughout life and may have significant functional and psychosocial effects 3

By following this referral and evaluation pathway, the underlying cause of nystagmus can be identified and appropriate management initiated to optimize visual outcomes and quality of life.