The clinical evaluation of infantile nystagmus: what to do first and why Journal Article uri icon
Overview
abstract
  • 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.

  • Link to Article
    publication date
  • 2017
  • published in
    Research
    keywords
  • Eye Diseases
  • Genetics
  • Pediatrics
  • Retrospective Studies
  • Additional Document Info
    volume
  • 38
  • issue
  • 1