Acute Posterior Multifocal Placoid Pigment Epitheliopathy Complicated by Fatal Cerebral Vasculitis.

A 21-year-old man experienced unilateral vision loss associated with multiple atrophic chorioretinal lesions. He was treated for a presumptive diagnosis of acute retinal necrosis, but his vision did not improve with antiviral therapy. Over the course of several weeks, his symptoms progressed to involve both eyes. The fellow eye showed characteristic yellow-white placoid lesions, prompting treatment with oral corticosteroids for acute posterior multifocal placoid pigment epitheliopathy (APMPPE). Despite high-dose therapy with prednisone 80 mg daily, the patient developed the acute onset of mental status changes within the next several days. Neuroimaging revealed multifocal large-vessel strokes associated with cerebral edema; these infarcts led to herniation and death. Postmortem histopathologic examination confirmed granulomatous inflammation in both ocular and cerebral vasculatures. Together with findings from multimodal imaging obtained throughout this patient's clinical course, our findings support the notion that granulomatous choroiditis is the mechanism of the ocular lesions seen in APMPPE. This granulomatous inflammation can also affect cerebral vessels, leading to strokes.

HINTS in the Acute Vestibular Syndrome: Pearls and Pitfalls.

The acute vestibular syndrome (AVS) is characterized by the rapid onset of vertigo, nausea/vomiting, nystagmus, unsteady gait, and head motion intolerance lasting more than 24 hours. We present 4 patients with AVS to illustrate the pearls and pitfalls of the Head Impulse, Nystagmus, Test of Skew (HINTS) examination.

Incidence and Causes of Overdiagnosis of Optic Neuritis.

Importance: Diagnostic error is an important source of medical error. Overdiagnosis of optic neuritis may prompt unnecessary and costly diagnostic tests, procedures, and treatments. Objective: To assess the incidence of and characterize factors contributing to overdiagnosis of acute optic neuritis. Design, Setting, and Participants: In this retrospective clinic-based cross-sectional study of new patient encounters, 122 patients referred for acute optic neuritis at a university-based Midwestern neuro-ophthalmology clinic between January 2014 and October 2016 were studied. Data were analyzed from September 2016 to July 2017. Interventions: Definite diagnosis was determined by neuro-ophthalmologists. For patients with alterative diagnoses, the Diagnosis Error Evaluation and Research taxonomy tool was applied to categorize the type of diagnostic error. Main Outcomes and Measures: The primary outcome was the primary type of diagnostic error in patients erroneously diagnosed as having optic neuritis. Secondary outcomes included final diagnosis and interventions undergone prior to referral. Results: A total of 122 patients were referred with acute optic neuritis during the study period; 88 (72.1%) were female, and the mean (SD) age was 42.6 (14.0) years. Of these, 49 patients (40.2%; 95% CI, 31.4-49.4) were confirmed to have optic neuritis, and 73 (59.8%; 95% CI, 50.6-68.6) had an alternative diagnosis. The most common alternative diagnoses were headache and eye pain, functional visual loss, and other optic neuropathies, particularly nonarteritic anterior ischemic optic neuropathy. The most common diagnostic error was eliciting or interpreting critical elements of history, which occurred in 24 of 73 patients (33%) with alternative diagnoses. Other common errors included errors weighing or considering alternative diagnoses (23 patients [32%]), errors weighing or interpreting physical examination findings (15 patients [21%]), and misinterpreting diagnostic test results (11 patients [15%]). In patients with alterative diagnoses, 12 (16%) had normal magnetic resonance imaging findings preceding the referral, 12 (16%) had received a lumbar puncture, and 8 (11%) had received unnecessary treatment with intravenous steroids. Conclusions and Relevance: These data suggest that nearly 60% (95% CI, 50.6-68.6) of patients referred for optic neuritis have an alternative diagnosis, with the most common errors being overreliance on a single item of history and failure to consider alternative diagnoses. Understanding pitfalls leading to overdiagnosis of optic neuritis may improve clinicians' diagnostic process.

A Middle-aged Man With Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis.

A 50-year old man presented for evaluation of progressive gait ataxia with a superimposed spastic paraparesis. During his clinic visit, he was also observed to have slow and limited eye movements. In this article, we discuss the clinical approach to this triad of symptoms and guide the reader to discover the patient's ultimate genetic diagnosis.

Vertebrobasilar Dolichoectasia Causing An Optic Tract Syndrome.

Vertebrobasilar dolichoectasia (VBD) is characterized by significant dilation, elongation, and tortuosity of the vertebrobasilar system. We present a unique case of VBD, confirmed by neuroimaging studies, showing vascular compression of the right optic tract and lower cranial nerves leading to an incongruous left homonymous inferior quadrantanopia and glossopharyngeal neuralgia.

Skew Deviation and Partial Ocular Tilt Reaction Due to Intratympanic Gentamicin Injection, with Review of the Literature.

Skew deviation is a rare side effect of intratympanic gentamicin injection for intractable Meniere's disease. When the skew deviation is accompanied by pathologic head tilt and ocular torsion, the result is an ocular tilt reaction (OTR). The authors report the case of a 56-year-old man with refractory Meniere's disease who developed binocular vertical diplopia following intratympanic gentamicin injection and was found to have skew deviation and a partial ocular tilt reaction. The authors also review the reported cases of skew deviation following intratympanic gentamicin and confirm this phenomenon, which has only rarely been reported in the literature.

A Young Man With Progressive Vision and Hearing Loss.

A 37-year-old man with a history of progressive bilateral sensorineural hearing loss presented to a neuro-ophthalmology clinic with an acute left homonymous hemianopsia. In this article, we discuss the clinical approach and differential diagnosis of progressive combined vision and hearing loss and guide the reader to discover the patient's ultimate diagnosis.

A Young Woman With Blurred Vision and Distal Paresthesias.

A 29-year-old woman presented with blurred vision and distal paresthesias. Her initial evaluation revealed severe bilateral optic disc edema with distal lower-extremity sensory and motor deficits and electrodiagnostic evidence of a length-dependent mixed demyelinating and axonal polyneuropathy. The results of routine diagnostic testing, including laboratory tests, magnetic resonance imaging, and lumbar puncture, were nondiagnostic. A targeted biopsy was ultimately required for diagnosis. In this article, we discuss the differential diagnosis and outline the clinical evaluation indicated for a patient presenting with demyelinating polyneuropathy and concurrent papilledema.

Isolated Ocular Motor Nerve Palsies.

An isolated ocular motor nerve palsy is defined as dysfunction of a single ocular motor nerve (oculomotor, trochlear, or abducens) with no associated or localizing neurologic signs or symptoms. When occurring in patients aged 50 or older, the most common cause is microvascular ischemia, but serious etiologies such as aneurysm, malignancy, and giant cell arteritis should always be considered. In this article, the authors review the clinical approach, anatomy, and differential diagnosis of each isolated ocular motor nerve palsy and discuss the clinical characteristics, pathophysiology, and treatment of microvascular ischemia.

Ocular Neuromyotonia Associated with Chronic Inflammatory Demyelinating Polyneuropathy.

Ocular neuromyotonia (ONM) is a neuro-ophthalmic disorder characterized by episodic diplopia caused by contraction of one or more ocular muscles due to spontaneous excitation of the respective ocular motor nerve. We report a patient whose ocular neuromyotonia arose in the setting of a subacute demyelinating polyneuropathy consistent with chronic inflammatory demyelinating polyneuropathy (CIDP) and subsequently resolved following the initiation of intravenous immunoglobulin (IVIg) for her neuropathy. Our patient provides additional evidence towards the role of demyelination and ephaptic neurotransmission in ocular neuromyotonia and also represents the first reported case of ocular neuromyotonia associated with a systemic neurological condition.