ReviewOphthalmic genetics
The clinical evaluation of infantile nystagmus: What to do first and why.
Review in Ophthalmic genetics. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review.Human genetics · 2022Pooled it
- [Early infantile nystagmus from the neuropediatric perspective].Die Ophthalmologie · 2026Review
- Measuring visual and quality of life outcomes in nystagmus: a scoping review.BMJ open ophthalmology · 2026Article
- [Differential diagnosis of infantile nystagmus].Die Ophthalmologie · 2026Review
- Aetiology, characteristics and workup of early onset high myopia.The British journal of ophthalmology · 2026Article
- Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinism.NPJ genomic medicine · 2026Article
- Sentinel Nystagmus: The Key to Identifying Type II Oculocutaneous Albinism (OCA2) in the Pediatric Setting.Case reports in pediatrics · 2026Article
- Clinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus Syndrome.Investigative ophthalmology & visual science · 2025Article
- Nystagmus in infancy: causes, characteristics and main tools for diagnosis.Eye (London, England) · 2025Article
- Advancing Insights into Pediatric Macular Diseases: A Comprehensive Review.Journal of clinical medicine · 2025Review
- Nystagmus in Clinical Practice: From Diagnosis to Treatment-A Comprehensive Review.Clinical ophthalmology (Auckland, N.Z.) · 2025Review
- Infantile Nystagmus Syndrome-Associated Inherited Retinal Diseases: Perspectives from Gene Therapy Clinical Trials.Life (Basel, Switzerland) · 2024Review
- Nystagmus in the B6(CG)Tyr(c-2J)/J Albino Mouse: A Functional and RNA-Seq Analysis.Investigative ophthalmology & visual science · 2024Article
- Human equivalent doses of L-DOPA rescues retinal morphology and visual function in a murine model of albinism.Scientific reports · 2023Article
- Genetic testing for infantile nystagmus syndrome with or without associated findings.Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2023Review
- [Human genetic diagnostics in hereditary eye diseases : What does the ophthalmologist need to know].Die Ophthalmologie · 2023Article
- The long-term outcomes of the Anderson-Kestenbaum procedure.Frontiers in ophthalmology · 2023Article
- Infantile nystagmus without overt eye abnormality: Early features and neuro-ophthalmological diagnosis.Developmental medicine and child neurology · 2022Article
- Cross-sectional observational analysis of the genetic referral practices across pediatric ophthalmology outpatient departments in an urban setting.Indian journal of ophthalmology · 2022Observational
- Nystagmus in Down Syndrome - a Retrospective Notes Review.The British and Irish orthoptic journal · 2022Article
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
introductionInfantile nystagmus has many causes, some life threatening. We determined the most common diagnoses in order to develop a testing algorithm.
methodsRetrospective 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."
resultsA 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.
conclusionThe 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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.