BOSTON—Misdiagnosing optic neuritis may expose patients to risks associated with undergoing MRI
with a contrast agent, lumbar puncture, and high-dose
steroid treatment. It also costs patients and hospitals
time and money. Leanne Stunkel, MD, a neurology
resident at Washington University in St. Louis, and her
colleagues observed a 60% misdiagnosis rate of optic
neuritis among patients who were referred to their neu-ro-ophthalmology clinic, according to a study presented
at the 69th Annual Meeting of the American Academy
“The most common [diagnostic] errors were overreliance on a single item of history and failure to consider
alternative diagnoses,” said Dr. Stunkel.
Optic neuritis is an acute inflammatory demyelinating condition of the optic nerve. Presenting symptoms
include acute or subacute vision loss, pain with eye
movement, and changes in color vision, especially affecting the color red, said Dr. Stunkel. Many patients
who were referred to their tertiary care clinic for optic neuritis turned out to have other conditions, which
prompted the researchers to find out more about optic
Previous studies found a misdiagnosis rate of between
10% and 40%, but none of these studies examined
which errors led to these misdiagnoses. To determine
how often optic neuritis is misdiagnosed and which diagnostic errors play a role, and to identify diagnoses
commonly mistaken for optic neuritis, Dr. Stunkel and
colleagues performed a retrospective chart review.
The researchers reviewed new patient encounters
between January 2014 and October 2016 to identify
patients referred with a diagnosis of optic neuritis. Ex-
perienced neuro-ophthalmologists determined the final
diagnosis. The researchers then applied the Diagnosis
Error Evaluation and Research (DEER) taxonomy tool
to identify diagnostic errors in cases in which the patient
did not have optic neuritis.
A total of 122 patients were referred for optic neu-
ritis during the study period. Only 40% of these pa-
tients were diagnosed with optic neuritis, and 60% of
patients had alternative diagnoses. The most common
alternative diagnoses were headache with eye pain and
visual symptoms (22%), functional visual loss (19%),
and other optic neuropathies (16%).
In addition, 15% of patients had retinal or macu-
lar problems rather than pathology of the optic nerve.
Other diagnoses included neoplasms, congenital disk
abnormalities, and inflammatory conditions that af-
fected other parts of the eye.
The most common diagnostic errors were from prob-
lems eliciting or interpreting the history (33%). “We
saw an overreliance on history of risk factors such as
multiple sclerosis or other inflammatory disorders and
some failure to elicit the fact that these were brief stereo-
typed episodes of vision loss, like in a migraine aura,”
said Dr. Stunkel.
Twenty-one percent of diagnostic errors were due to
errors interpreting physical exam findings, and 14% of
errors were due to misinterpretation of diagnostic tests.
Finally, 32% of diagnostic errors resulted from failure to
consider alternative diagnoses. Of patients who did not
have optic neuritis, 17% had already received a lumbar
puncture, 17% had received a contrast MRI that turned
out to be negative, and 11 patients had inappropriately
received IV steroids, said Dr. Stunkel.
Some of the study limitations include that the DEER
category assignments were subjective, and that not every
referral for optic neuritis was included in the study due
to limitations of the clinic’s electronic medical records
system, said Dr. Stunkel. NR
How Often Is Optic Neuritis Misdiagnosed?
Misdiagnosis may lead to unnecessary and costly procedures and treatments.