Want to take quizzes and track your credits?
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.
Please finish quiz first before checking answer.
Read the answer below and download your certificate.
Read the discussion below and retake the quiz.
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
Sign in to take quiz and track your certificates
JN Learning™ is the home for CME and MOC from the JAMA Network. Search by specialty or US state and earn AMA PRA Category 1 CME Credit™ from articles, audio, Clinical Challenges and more. Learn more about CME/MOC
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 (firstname.lastname@example.org).
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.
You currently have no searches saved.