Journal article
The clinical evaluation of infantile nystagmus: What to do first and why
Ophthalmic Genetics: Festschrift Honoring Irene Hussels Maumenee, Vol.38(1), pp.22-33
01/02/2017
DOI: 10.1080/13816810.2016.1266667
PMCID: PMC5665016
PMID: 28177849
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.
Details
- Title: Subtitle
- The clinical evaluation of infantile nystagmus: What to do first and why
- Creators
- Morgan Bertsch - Department of Ophthalmology and Visual Sciences, Wynn Institute for Vision Research, Roy J. and Lucille A. Carver College of Medicine, University of IowaMichael Floyd - HealthPartnersTaylor Kehoe - Physician Assistant Program, University of IowaWanda Pfeifer - Department of Ophthalmology and Visual Sciences, Wynn Institute for Vision Research, Roy J. and Lucille A. Carver College of Medicine, University of IowaArlene V Drack - Department of Ophthalmology and Visual Sciences, Wynn Institute for Vision Research, Roy J. and Lucille A. Carver College of Medicine, University of Iowa
- Resource Type
- Journal article
- Publication Details
- Ophthalmic Genetics: Festschrift Honoring Irene Hussels Maumenee, Vol.38(1), pp.22-33
- DOI
- 10.1080/13816810.2016.1266667
- PMID
- 28177849
- PMCID
- PMC5665016
- NLM abbreviation
- Ophthalmic Genet
- ISSN
- 1381-6810
- eISSN
- 1744-5094
- Publisher
- Taylor & Francis
- Grant note
- N/A / Wynn Institute for Vision Research N/A / Research to Prevent Blindness (10.13039/100001818) N/A / Foundation Fighting Blindness (10.13039/100001116) NIH T35 HL007485 / National Institutes of Health (10.13039/100000002) The Ronald Keech Associate Professorship in Pediatric Genetic Eye Disease Research; Carver College of Medicine / University of Iowa (10.13039/100008893) N/A / Vision for Tomorrow Foundation
- Language
- English
- Date published
- 01/02/2017
- Academic Unit
- Stead Family Department of Pediatrics; Ophthalmology and Visual Sciences
- Record Identifier
- 9983980053602771
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