A patient with persistent "dry eye" symptoms that have been unresponsive to topical therapy is eventually diagnosed with ocular pain syndrome, and is successfully treated with oral amitriptyline. Another patient with a decades-long history of debilitating "dry eye" was found to have nocturnal lagophthalmos related to prior blepharoplasty, which improved with simple nighttime patching.

The percentage of referral misdiagnoses such as these range from 25% in emergency settings to 49% in neuro-ophthalmology consultations. In medicine overall, diagnostic errors affect an estimated 5% of adults in outpatient care and account for 17% of inpatient adverse events. Researchers in JAMA Ophthalmology recently set out to better understand how diagnostic errors in ophthalmology occur and what interventions can be made to reduce them and the resulting harm. 

First, they addressed cognitive biases that are most likely associated with diagnostic inaccuracy, including anchoring bias, or over-reliance on initial impressions or isolated findings despite evidence to the contrary. The investigators noted that in their experience, anchoring bias can explain many of the referrals they receive with the misdiagnosis dry eye or the ambiguous diagnosis dry eye disease. Dry eye is often the diagnosis when a patient reports feelings of dryness. The authors noted the case of one practice where only 21% of patients referred with "dry eye" actually had keratoconjunctivitis sicca. The rest of the patients referred for dry eye were subsequently diagnosed with conditions including ocular rosacea, neurotrophic keratopathy, or anterior basement membrane dystrophy.

Anchoring bias issues can be further complicated by varying understandings of terminology. For example, the term "dry eye disease" may be used inconsistently, leading to misunderstandings across medical disciplines. Some clinicians may even interpret the term "disease" differently than others, prompting unnecessary rheumatologic investigations.

Ophthalmologists may also lack training in taking comprehensive medical histories or interpreting specific corneal staining patterns. Misinterpretation of corneal staining or shortened tear breakup times often results in erroneous diagnoses.

Minor discomforts linked to contact lens use, environmental irritants, or prolonged digital device usage are often labeled as chronic diseases, leading to overtreatment and mismanagement. Neuropathic pain syndromes, such as those following refractive surgery or chemical injuries, are often mistaken for dry eye, which can delay effective management.

The researchers made several suggestions to decrease diagnostic error, namely taking more time with patient histories as a key diagnostic tool, particularly for differentiating ocular surface diseases and pain syndromes; adopting precise and universally accepted terms to reduce misinterpretation and unnecessary interventions; and training clinicians to recognize and mitigate anchoring and other biases to improve diagnostic accuracy.

“Sometimes,” they concluded, “ocular discomfort is just discomfort and not a disease, and punctate epithelial erosions are iatrogenic in nature…. Sometimes, tear film instability is a consequence of corneal disease, not an abnormal tear film, and as a general rule, epiphora is caused by ocular conditions that either irritate the eye or disrupt normal tear drainage, rather than being pathognomonic of dry eye.”

A full list of author disclosures can be found in the published research