The clinical evaluation of infantile nystagmus: What to do first and why

Ophthalmic Genet. 2017 Jan-Feb;38(1):22-33. doi: 10.1080/13816810.2016.1266667.


Introduction: Infantile nystagmus has many causes, some life threatening. We determined the most common diagnoses in order to develop a testing algorithm.

Methods: Retrospective chart review. Exclusion criteria were no nystagmus, acquired after 6 months, or lack of examination.

Data collected: pediatric eye examination findings, ancillary testing, order of testing, referral, and final diagnoses. Final diagnosis was defined as meeting published clinical criteria and/or confirmed by diagnostic testing. Patients with a diagnosis not meeting the definition were "unknown." Patients with incomplete testing were "incomplete." Patients with multiple plausible etiologies were "multifactorial." Patients with negative complete workup were "motor."

Results: A total of 284 charts were identified; 202 met inclusion criteria. The three most common causes were Albinism (19%), Leber Congenital Amaurosis (LCA; 14%), and Non-LCA retinal dystrophy (13%). Anatomic retinal disorders comprised 10%, motor another 10%. The most common first test was MRI (74/202) with a diagnostic yield of 16%. For 28 MRI-first patients, nystagmus alone was the indication; for 46 MRI-first patients other neurologic signs were present. 0/28 nystagmus-only patients had a diagnostic MRI while 14/46 (30%) with neurologic signs did. The yield of ERG as first test was 56%, OCT 55%, and molecular genetic testing 47%. Overall, 90% of patients had an etiology identified.

Conclusion: The most common causes of infantile nystagmus were retinal disorders (56%), however the most common first test was brain MRI. For patients without other neurologic stigmata complete pediatric eye examination, ERG, OCT, and molecular genetic testing had a higher yield than MRI scan. If MRI is not diagnostic, a complete ophthalmologic workup should be pursued.

Keywords: Electroretinogram; magnetic resonance imaging; nystagmus.

Publication types

  • Case Reports
  • Review
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Albinism, Ocular / complications
  • Albinism, Ocular / diagnosis
  • Algorithms
  • Brain / pathology
  • Child
  • Child, Preschool
  • Electroretinography*
  • Female
  • Genetic Testing*
  • Humans
  • Infant
  • Leber Congenital Amaurosis / complications
  • Leber Congenital Amaurosis / diagnosis
  • Magnetic Resonance Imaging*
  • Male
  • Nystagmus, Congenital / diagnosis*
  • Nystagmus, Congenital / etiology
  • Retinal Dystrophies / complications
  • Retinal Dystrophies / diagnosis
  • Retrospective Studies