Characterizing Diagnostic Error in Referrals to an Academic Cornea and External Disease Practice

To systematically describe characteristics of diagnostic error in referrals to the ophthalmology subspecialty of corneal and external disease.

Retrospective diagnostic accuracy and validity analysis.

All consecutive new patient referrals to a tertiary care academic cornea clinic from November 2021 to May 2022.

We analyzed medical records of 118 patients to extract diagnoses determined by referring and referral providers. Among the subset identified as diagnostic error cases, we further analyzed patterns, common pitfalls, cause of error using the Diagnosis Error Evaluation and Research (DEER) Taxonomy, presence of naming ambiguity, frequency of disease occurrences, and time to final diagnosis and treatment.

Primary outcome measure was percentage of total cases with diagnostic error. Secondary outcome measures included frequencies of specific ophthalmologic conditions among several categories of diagnostic error (missed, wrong, or ambiguous), error type per the DEER Taxonomy, and time to diagnosis and treatment.

Diagnostic error rate was 42%. Most (80%) cases were referred by ophthalmologists. Ambiguity in diagnostic terminology (DA) contributed to 25 of the 49 (51%) diagnostic error cases. DA cases suffered from delays in diagnosis and treatment similar to cases of frank diagnostic error (traditional DE). Misdiagnosis extended beyond a year in 5 of 25 DA cases and 1 of 24 traditional DE cases; symptomatic burden extended beyond a year in 10 of 25 DA cases and 9 of 24 traditional DE cases. Common diagnostic errors leading to ineffective treatment included: missing the diagnosis of ocular neuropathic pain despite absence of ocular surface disease and failing to identify exposure keratopathy, especially as a consequence of nocturnal lagophthalmos. All diagnostic error cases were caused by failures in history-taking or physical examination.

Among referrals to an academic cornea and external disease practice, diagnostic error was predominantly localized to the history or physical examination. We identified ambiguous diagnostic language as an important type of diagnostic error and found that this leads to delay in successful therapy to the same extent as outright misdiagnosis. Addressing cognitive biases during ophthalmological training may be an actionable strategy to prevent error and harmful effects on patients.