The clinical evaluation of infantile nystagmus: What to do first and why.
Infantile nystagmus has many causes, some life threatening. We determined the most common diagnoses in order to develop a testing algorithm.



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



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."



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.



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.
a Department of Ophthalmology and Visual Sciences, Wynn Institute for Vision Research , Roy J. and Lucille A. Carver College of Medicine, University of Iowa , Iowa City , Iowa , USA.
Morgan
M
Bertsch
a Department of Ophthalmology and Visual Sciences, Wynn Institute for Vision Research , Roy J. and Lucille A. Carver College of Medicine, University of Iowa , Iowa City , Iowa , USA.|b HealthPartners , Minneapolis , Minnesota , USA.
Michael
M
Floyd
a Department of Ophthalmology and Visual Sciences, Wynn Institute for Vision Research , Roy J. and Lucille A. Carver College of Medicine, University of Iowa , Iowa City , Iowa , USA.|c Physician Assistant Program , University of Iowa , Iowa City , Iowa , USA.
Taylor
T
Kehoe
a Department of Ophthalmology and Visual Sciences, Wynn Institute for Vision Research , Roy J. and Lucille A. Carver College of Medicine, University of Iowa , Iowa City , Iowa , USA.
Wanda
W
Pfeifer
a Department of Ophthalmology and Visual Sciences, Wynn Institute for Vision Research , Roy J. and Lucille A. Carver College of Medicine, University of Iowa , Iowa City , Iowa , USA.
Arlene V
AV
Drack
D016117:Albinism, Ocular / Q000150:complications / Q000175:diagnosis; D000465:Algorithms; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004596:Electroretinography; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D057130:Leber Congenital Amaurosis / Q000150:complications / Q000175:diagnosis; D008279:Magnetic Resonance Imaging; D008297:Male; D020417:Nystagmus, Congenital / Q000175:diagnosis* / Q000209:etiology; D058499:Retinal Dystrophies / Q000150:complications / Q000175:diagnosis; D012189:Retrospective Studies
Electroretinogram; magnetic resonance imaging; nystagmus