Creutzfeldt-Jakob disease presenting with visual manifestations

Creutzfeldt-Jakob disease (CJD) is a rare and progressive degenerative disease of the central nervous system (CNS), characterized pathologically by spongiform changes in various CNS tissues. It most often presents with rapidly progressing dementia and cognitive decline, along with other neurologic findings that correspond to affected areas of the CNS. We present 5 sporadic cases of CJD presenting with visual manifestations, 2 of which were consistent with the Heidenhain variant, which predominantly affects the occipital lobe.

Each of the cases demonstrated electroencephalographic changes suggestive of CJD. The neuro-ophthalmic findings included both sensory and motor manifestations, including cortical blindness, hemianopsia, dysmetria, visual hallucinations, hypometric saccades, and diplopia.

All patients died within 5 months after the onset of signs of the disease and pathologic specimens were obtained in 4 of the cases.

Although CJD is not a commonly seen condition, its possibility should be entertained in any patient presenting with typical neurologic deterioration and complaining of visual symptoms.