To prospectively examine diagnostic error of neuro-ophthalmic conditions and resultant harm at multiple sites.
Prospective cross-sectional study.
496 consecutive adult new patients seen at three university-based neuro-ophthalmology clinics in the United States in 2019-2020.
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 suffered harm due to the misdiagnosis.
The primary outcome was whether patients who were misdiagnosed prior to neuro-ophthalmology referral suffered harm as a result of the misdiagnosis. Secondary outcomes included appropriateness of referrals, misdiagnosis rate, interventions undergone prior to referral, and the primary type of diagnostic error.
Referral diagnosis was incorrect in 49% of cases. Misdiagnosed patients suffered harm in 26%, which could have been prevented by earlier referral to neuro-ophthalmology in 97%. Patients experienced inappropriate laboratory testing, diagnostic imaging, or treatment prior to referral in 23%, with higher rates for patients misdiagnosed prior to referral (34% of patients compared to 13% with a correct referral diagnosis, p<0.0001). Seventy-six percent of inappropriate referrals were misdiagnosed, compared to 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 utilization or interpretation of diagnostic testing (13%). In 489/496 (99%) patients, neuro-ophthalmologic consultation impacted 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.
Misdiagnosis of neuro-ophthalmic conditions, mismanagement prior to referral, and preventable harm are common. Early appropriate referral to neuro-ophthalmology may prevent patient harm.

Copyright © 2021. Published by Elsevier Inc.

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