Three Cases of Creutzfeldt-Jakob Disease with Visual Disturbances as Initial Manifestation

Abstract

We report our findings in 3 cases of Creutzfeldt-Jakob disease (CJD) with visual disturbances as the initial manifestations. These cases were found to have the Heidenhain variant of CJD. Two cases initially presented with progressively blurred vision and homonymous hemianopia. The other case initially presented with blurred vision and a decrease in the central sensitivity in both eyes. These 3 cases developed neurological symptoms about 4 weeks after the onset of visual symptoms. All were diagnosed with the Heidenhain variant of CJD based on the clinical course and confirmed by positive assays of the cerebrospinal fluid for the 14-3-3 protein and tau protein. In addition, the diagnosis was confirmed by the findings of diffusion-weighted magnetic resonance imaging and electroencephalography. Patients can present with isolated visual symptoms which precede a decline in cognition by weeks due to the predominantly occipital lobe disease. The 3 patients were referred to the neurology department within 1 month of onset. The early diagnosis was necessary to avoid spread of the infection. In cases of suspected CJD, it is important to consult a neurologist quickly to make a definitive diagnosis of CJD. Ophthalmologists should be aware that visual impairments may be the first indication of CJD.