Patient Harm Due to Diagnostic Error of Neuro-Ophthalmologic Conditions

PURPOSE: To prospectively examine diagnostic error of neuro-ophthalmic conditions and resultant harm at multiple sites. DESIGN: Prospective, cross-sectional study. PARTICIPANTS: A total of 496 consecutive adult new patients seen at 3 university-based neuro-ophthalmology clinics in the United States in 2019 to 2020. METHODS: 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 experienced harm due to the misdiagnosis. MAIN OUTCOME MEASURES: The primary outcome was whether patients who were misdiagnosed before neuro-ophthalmology referral experienced harm as a result of the misdiagnosis. Secondary outcomes included appropriateness of referrals, misdiagnosis rate, interventions undergone before referral, and the primary type of diagnostic error. RESULTS: Referral diagnosis was incorrect in 49% of cases. A total of 26% of misdiagnosed patients experienced harm, which could have been prevented by earlier referral to neuro-ophthalmology in 97%. Patients experienced inappropriate laboratory testing, diagnostic imaging, or treatment before referral in 23%, with higher rates for patients misdiagnosed before referral (34% of patients vs. 13% with a correct referral diagnosis, P < 0.0001). Seventy-six percent of inappropriate referrals were misdiagnosed, compared with 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 use or interpretation of diagnostic testing (13%). In 489 of 496 patients (99%), neuro-ophthalmology consultation (NOC) affected 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. CONCLUSIONS: Misdiagnosis of neuro-ophthalmic conditions, mismanagement before referral, and preventable harm are common. Early appropriate referral to neuro-ophthalmology may prevent patient harm

Overdiagnosis of optic neuritis

This is a study to assess the incidence of, and characterize factors contributing to, overdiagnosis of optic neuritis in patients seen by neuro-ophthalmology at one tertiary care center. Accurate diagnosis of optic neuritis facilitates appropriate work-up, early diagnosis of multiple sclerosis, and access to follow-up. Alternative diagnoses may be mistaken for optic neuritis, leading to unnecessary MRIs, lumbar punctures (LPs), treatments, loss of time, and expense

Diagnostic Error and Neuro-Ophthalmology

Despite medical advances, studies show alarmingly high rates of diagnostic error (up to 15% in the USA). Because diagnosis of neuro-ophthalmologic conditions requires resource-intensive analytic reasoning, these conditions are particularly vulnerable to misdiagnosis, it is particularly prone to diagnostic errors. This review summarizes recent literature on diagnostic error relevant to neuro-ophthalmology practice

The Grey Area of White Matter

A 76 year-old man presented with two months of progressive confusion, vision loss, and left-sided weakness. His medical history was notable for hypothyroidism, type 2 diabetes mellitus, coronary artery disease, basal cell carcinoma of the forehead status-post excision, deep vein thrombosis, and several years of recurrent dyspnea. Two months prior to neuro- ophthalmology evaluation, he was hospitalized for dyspnea, and lung biopsy revealed non-necrotizing granulomas. Corticosteroids were initiated for pulmonary sarcoidosis

Severe Papilledema Associated With Chiari I Malformation

Chiari I malformation involves downward displacement of the cerebellar tonsils through the foramen magnum. Though rare, papilledema has been attributed to Chiari I malformation, and in a few cases surgical decompression has been shown to resolve the papilledema

Neuro-ophthalmic Manifestations of Hyperglycemic Encephalopathy

Poorly controlled diabetes mellitus is associated with multiple ocular manifestations including diabetic retinopathy and diabetic papillopathy. A potentially life-threatening consequence of uncontrolled diabetes is hyperosmolar hyperglycemic state (HHS) which is typically found in patients with blood glucose >600 mg/dL and a serum osmolality >320 mOsm/kg without significant ketone production or acidemia. HHS often presents as encephalopathy, obtundation, or more focal neurologic deficits such as hemiparesis or hemianopsia. However, focal deficits can manifest in hyperglycemic patients with substantially lower serum osmolality. We discuss four patients with serum osmolality >300 but <320 presenting with ophthalmologic symptoms

Multiple Myeloma With Idiopathic Intracranial Hypertension

Iron deficiency anemia and aplastic anemias have been described as precipitants of intracranial hypertension, but the association between multiple myeloma and intracranial hypertension has not been well studied

Examining referral patterns to neuro-ophthalmologists

Neuro-ophthalmologists specialize in complex, urgent, vision- and life-threatening problems, diagnostic dilemmas, and management of complex work-ups. Access is currently limited by a relatively small number of neuro-ophthalmologists, and patients may be affected by incorrect or delayed diagnosis of these conditions. We analyzed referral patterns to neuro-ophthalmologists, characterized rates of misdiagnoses and delayed diagnoses in patients referred, and identified characteristics of referrals likely to benefit most from neuro-ophthalmologic evaluation

Neuro-Imaging Evidence for Reversible Collapsibility of the Distal Transverse Sinuses in Spontaneous CSF Leak

Many patients who develop spontaneous CSF leaks have demographic similarities to IIH patients, and some patients develop symptoms of intracranial hypertension after leak repair. Spontaneous intracranial CSF leak is likely on the same spectrum disorder as idiopathic intracranial hypertension (IIH) and is sometimes a complication of definite IIH. Characteristic radiologic signs of IIH are common in spontaneous CSF leak patients, but little is known about changes in the distal transverse sinuses in patients with spontaneous CSF leak

Misdiagnosis of Third Nerve Palsy

Third (3rd) nerve palsy is characterized by some combination of ptosis, limited adduction, supraduction, infraduction, and pupillary function. Causes include microvascular ischemia, compression, and aneurysms. Accurate diagnosis is essential to avoid potentially life-threatening consequences and unnecessary testing. We assessed the frequency of 3rd nerve palsy misdiagnosis based upon referrals to two high volume tertiary care neuro-ophthalmology services, and characterized the specific diagnostic errors