Neuro-Ophthalmic Conditions Frequently Misdiagnosed

Chinese technician checking MRI results in hospital
Research shows referral diagnoses were incorrect in nearly half of cases.

The right referral to neuro-ophthalmology specialists could help prevent patient harm from diagnostic errors of neuro-ophthalmologic conditions, according to a study published in Ophthalmology.

The prospective cross-sectional study looked at 496 consecutive new adult patients from 3 university-based neuro-ophthalmology clinics in the United States from 2019 to 2020. Researchers collected data in demographics, prior care, referral diagnosis, final diagnosis, diagnostic testing, treatment, patient disposition, and impact of the neuro-ophthalmologic encounter. In misdiagnosed cases, they determined the reason for the error with the Diagnosis Error Evaluation and Research (DEER) taxonomy tool and if the patient experienced harm from the misdiagnosis. 

The primary outcome was if patients misdiagnosed before referral to neuro-ophthalmology were negatively impacted as a result of the misdiagnosis. The secondary outcomes were appropriateness of referrals, misdiagnosis rate, interventions undergone prior to referral, and the primary type of diagnostic error.

Researchers found that referral diagnosis was incorrect in 49% of cases. In 26%, misdiagnosed patients suffered harm — harm that could have been prevented by earlier referral to neuro-ophthalmology in 97% of cases. 

In 23% of cases, patients experienced: inappropriate laboratory testing, diagnostic imaging, or treatment prior to referral, with higher rates for patients misdiagnosed prior to referral (34% of patients compared with 13% with a correct referral diagnosis, P <.0001). 

“Seventy-six percent of inappropriate referrals were misdiagnosed, compared to 45% of appropriate referrals (P <.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%),” according to investigators. 

The most common sources of diagnostic error include physical examination (36%), generation of a complete differential diagnosis (24%), history taking (24%), and utilization or interpretation of diagnostic testing (13%), the report shows.

“In 489/496 (99%) patients, neuro-ophthalmologic consultation impacted patient care,” according to the study. “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.”

The researchers advocate for greater “incentives to attract trainees to subspecialize in neuro-ophthalmology.” 


Stunkel L, Sharma RA, Mackay DD, et al. Patient harm due to diagnostic error of neuro-ophthalmologic conditions. Ophthalmol.  Published online March 10 2021. doi:10.1016/j.ophtha.2021.03.008