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Homonymous Hemianopia With Normal Magnetic Resonance Imaging

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.
1 Credit CME

A man in his 80s presented with 3 months of painless progressive vision loss, followed by gait changes, memory loss, and 10-lb unintentional weight loss. Medical history was notable for coronary artery disease, hypothyroidism, and prostate cancer in remission.

On ophthalmic examination, visual acuity was hand motion OU (baseline from 9 months prior was 20/50 OD and 20/30 OS), with briskly reactive left pupil and trace right relative afferent pupillary defect. He could detect 2/4 gross colors in the right eye and 1/4 gross colors in the left eye. Confrontation visual fields revealed dense right homonymous hemianopia with additional asymmetric deficits on Goldmann perimetry (Figure 1). Extraocular movements were full with gaze-evoked nystagmus. Horizontal vestibulo-ocular reflex, assessed by head impulse testing, was normal. Slitlamp and dilated fundus examination revealed pseudophakia and mild epiretinal membrane in the right eye and mild nuclear sclerosis in the left eye.

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Creutzfeldt-Jakob Disease (CJD), Heidenhain variant

C. Order cerebrospinal fluid prion disease panel

The combination of rapidly declining visual acuity, homonymous hemianopia, nystagmus, and neurologic and cognitive deficits merits high suspicion and appropriate diagnostic workup for rapidly progressive neurodegenerative disease, such as prion disease (choice C). Pars plana vitrectomy with vitreous biopsy (choice A) is inappropriate without clinical evidence of intraocular infection or malignancy. Secondary stroke prevention (choice B) is not indicated with normal neuroimaging. The examination findings strongly suggest organic rather than functional disease (choice D).

Creutzfeldt-Jakob Disease (CJD) is a rapidly progressive, fatal neurodegenerative disease caused by accumulation of pathologic misfolded prion protein in the brain. Eighty-five percent of cases are sporadic, 10% to 15% are familial, and the remainder are iatrogenically transmitted through contamination of neurosurgical equipment, human pituitary hormones, or dura mater or corneal grafts.1 The rare Heidenhain variant of sporadic CJD features early and initially isolated visual disturbances caused by occipital cortex degeneration, including cortical blindness, dyschromatopsia, visual distortions, visual field defects, and hallucinations.2 Early isolated ophthalmologic involvement can lead to diagnostic confusion and delayed evaluation by a neurologist.2

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Article Information

Corresponding Author: Amanda D. Henderson, MD, Wilmer Eye Institute, Division of Neuro-Ophthalmology, Johns Hopkins University School of Medicine, 600 N Wolfe St, Wilmer 233, Baltimore, MD 21287 (ahende24@jhmi.edu).

Published Online: April 16, 2020. doi:10.1001/jamaophthalmol.2020.0447

Conflict of Interest Disclosures: None reported.

Additional Contributions: We thank Daniel R. Gold, DO, Steven P. Rowe, MD, PhD, Roksolyana Tourkevich, MD, Rima Tulbah, MD, and the several Johns Hopkins neurologists involved in this patient’s care for their valuable contributions to the clinical and radiologic evaluation of this patient.

References
1.
World Health Organization. Global surveillance, diagnosis and therapy of human transmissible spongiform encephalopathies: report of a WHO Consultation. Geneva, Switzerland. February 1998. Accessed August 24, 2019. https://www.who.int/csr/resources/publications/bse/WHO_EMC_ZDI_98_9/en/
2.
Baiardi  S , Capellari  S , Ladogana  A ,  et al.  Revisiting the Heidenhain variant of Creutzfeldt-Jakob Disease: evidence for prion type variability influencing clinical course and laboratory findings.   J Alzheimers Dis. 2016;50(2):465-476. doi:10.3233/JAD-150668PubMedGoogle ScholarCrossref
3.
Centers for Disease Control and Prevention. CDC's diagnostic criteria for Creutzfeldt-Jakob Disease (CJD), 2018. Accessed August 24, 2019. https://www.cdc.gov/prions/cjd/diagnostic-criteria.html.
4.
Orrù  CD , Groveman  BR , Hughson  AG ,  et al.  RT-QuIC assays for prion disease detection and diagnostics.   Methods Mol Biol. 2017;1658:185-203. doi:10.1007/978-1-4939-7244-9_14PubMedGoogle ScholarCrossref
5.
McGuire  LI , Poleggi  A , Poggiolini  I ,  et al.  Cerebrospinal fluid real-time quaking-induced conversion is a robust and reliable test for sporadic Creutzfeldt-Jakob disease.   Ann Neurol. 2016;80(1):160-165. doi:10.1002/ana.24679PubMedGoogle ScholarCrossref
6.
Foutz  A , Appleby  BS , Hamlin  C ,  et al.  Diagnostic and prognostic value of human prion detection in cerebrospinal fluid.   Ann Neurol. 2017;81(1):79-92. doi:10.1002/ana.24833PubMedGoogle ScholarCrossref
7.
Orrú  CD , Bongianni  M , Tonoli  G ,  et al.  A test for Creutzfeldt-Jakob disease using nasal brushings.   N Engl J Med. 2014;371(6):519-529. doi:10.1056/NEJMoa1315200PubMedGoogle ScholarCrossref
8.
Bongianni  M , Orrù  C , Groveman  BR ,  et al.  Diagnosis of human prion disease using real-time quaking-induced conversion testing of olfactory mucosa and cerebrospinal fluid samples.   JAMA Neurol. 2017;74(2):155-162. doi:10.1001/jamaneurol.2016.4614PubMedGoogle ScholarCrossref
9.
Bonda  DJ , Manjila  S , Mehndiratta  P ,  et al.  Human prion diseases.   Neurosurg Focus. 2016;41(1):E10. doi:10.3171/2016.5.FOCUS15126PubMedGoogle Scholar
10.
Renard  D , Castelnovo  G , Collombier  L , Thouvenot  E , Boudousq  V .  FDG-PET in Creutzfeldt-Jakob disease.   Prion. 2017;11(6):440-453. doi:10.1080/19336896.2017.1387348PubMedGoogle ScholarCrossref
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