Cited by 55Clinical Reasoning and Diagnostic SkillsPatient Safety and Medication ErrorsOphthalmology and Visual Health Research

Patient harm due to diagnostic error of neuro-ophthalmologic conditions.

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Stunkel, Leanne, Sharma, Rahul A., Mackay, Devin D., Wilson, Bradley, Van Stavern, Gregory P., Newman, Nancy J., Biousse, Valérie·2021·Ophthalmology

Abstract

Purpose To prospectively examine diagnostic error of neuro-ophthalmic conditions and resultant harm at multiple sites.Design Prospective, cross-sectional study.Participants A total of 496 consecutive adult new patients seen at 3 university-based neuro-ophthalmology clinics in the United States in 2019 to 2020.Methods Collected data regarding demographics, prior care, referral diagnosis, final diagnosis, diagnostic testing, treatment, patient disposition, and impact of the neuro-ophthalmologic encounter. For misdiagnosed patients, we identified the cause of error using the Diagnosis Error Evaluation and Research (DEER) taxonomy tool and whether the patient experienced harm due to the misdiagnosis.Main outcome measures The primary outcome was whether patients who were misdiagnosed before neuro-ophthalmology referral experienced harm as a result of the misdiagnosis. Secondary outcomes included appropriateness of referrals, misdiagnosis rate, interventions undergone before referral, and the primary type of diagnostic error.Results Referral diagnosis was incorrect in 49% of cases. A total of 26% of misdiagnosed patients experienced harm, which could have been prevented by earlier referral to neuro-ophthalmology in 97%. Patients experienced inappropriate laboratory testing, diagnostic imaging, or treatment before referral in 23%, with higher rates for patients misdiagnosed before referral (34% of patients vs. 13% with a correct referral diagnosis, P < 0.0001). Seventy-six percent of inappropriate referrals were misdiagnosed, compared with 45% of appropriate referrals (P < 0.0001). The most common reasons for referral were optic neuritis or optic neuropathy (21%), papilledema (18%), diplopia or cranial nerve palsies (16%), and unspecified vision loss (11%). The most common sources of diagnostic error were the physical examination (36%), generation of a complete differential diagnosis (24%), history taking (24%), and use or interpretation of diagnostic testing (13%). In 489 of 496 patients (99%), neuro-ophthalmology consultation (NOC) affected patient care. In 2% of cases, neuro-ophthalmology directly saved the patient's life or vision; in an additional 10%, harmful treatment was avoided or appropriate urgent referral was provided; and in an additional 48%, neuro-ophthalmology provided a diagnosis and direction to the patient's care.Conclusions Misdiagnosis of neuro-ophthalmic conditions, mismanagement before referral, and preventable harm are common. Early appropriate referral to neuro-ophthalmology may prevent patient harm.

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  • We improved specificity by requiring a second ischemic optic neuropathy diagnosis code in one of the definitions because a definitive diagnosis often requires multiple visits.

    “Because a definitive diagnosis often requires multiple visits, we improved specificity by requiring a second ischemic optic neuropathy diagnosis code in one of the definitions.”

    From Semaglutide and Nonarteritic Anterior Ischemic Optic Neuropathy (2025) · cites this paper as [20]

    The Methods (Institutional section; page not given) say that in some cases a clear neuro-ophthalmic diagnosis required follow-up on results or observation over time. That supports the rationale for allowing more than one visit, but it does not establish that this often occurs for ischemic optic neuropathy. The source also does not evaluate whether requiring a second diagnosis code improves specificity; the citing authors describe that as their own methodological choice. (LLM, conf=0.82)

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Research works printed but not linked: 1

  1. [35]35. Stuart A. Neuro: How to Minimize Diagnostic Errors. In. EyeNet Magazine. Vol September 2020. San Francisco, CA: American Academy of Ophthalmology; 2020:44-53.

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Authors
Stunkel, L., Sharma, R. A., Mackay, D. D., Wilson, B., Van Stavern, G. P., Newman, N. J., & Biousse, V.
Affiliations
  • Washington University in St. Louis (US)
  • University of Toronto (CA)
  • Indiana University Indianapolis (US)
  • Emory University (US)
Corresponding author
Biousse, Valérie
Venue
Ophthalmology
Publisher
Elsevier BV
Published
2021-09
Volume
128
Issue
9
Pages
1356-1362
ISSN
0161-6420 (ISSN-L)
OpenAlex
W3135633933
Cited by
54
References
39
Citations by year
2026: 9 · 2025: 13 · 2024: 12 · 2023: 10 · 2022: 5 · 2021: 5
FWCI
8.59
Type
journal article
Language
en
Open access
Locations
  • Ophthalmology (publishedVersion)
  • PubMed (publishedVersion)
  • IUScholarWorks (Indiana University) (submittedVersion)
  • Purdue University Indianapolis (Indiana University) (submittedVersion)
Funders
  • Research to Prevent Blindness (P30EY06360)
  • Emory University
  • Washington University in St. Louis
  • National Institutes of Health (EY06360)
  • School of Medicine, Emory University
  • National Eye Institute (P-30-EY06360, EY0 6360, P30EY006360)
  • National Institute of Neurological Disorders and Stroke
Topics
  • Health Sciences › Medicine › Family Practice › Clinical Reasoning and Diagnostic Skills
  • Health Sciences › Health Professions › Emergency Medical Services › Patient Safety and Medication Errors
  • Health Sciences › Medicine › Ophthalmology › Ophthalmology and Visual Health Research
Keywords
patient harm, misdiagnosis rate, deer taxonomy, inappropriate diagnostic testing, inappropriate referrals, optic neuritis, papilledema, diplopia, cranial nerve palsy, vision loss, differential diagnosis, medical history, physical examination, patient safety, quality of care, health care costs
MeSH terms
Adolescent, Adult, Aged, Aged, 80 and over, Cross-Sectional Studies, Diagnostic Errors, Eye Diseases, Female, Humans, Male, Middle Aged, Optic Nerve Diseases, Prospective Studies, Referral and Consultation, Medical Errors, Patient Harm

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