Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.
Prion. 2023 Dec;17(1):133-137. doi: 10.1080/19336896.2023.2223527.
The Heidenhain variant Creutzfeldt-Jakob disease (CJD) is characterized by isolated visual symptoms at disease onset, which may mimic numerous ophthalmological disorders. Anti-recoverin autoantibody can be found in patients with autoimmune-related retinopathies. The presence of this antibody with visual symptoms might be confusing in the early stages of the Heidenhain variant CJD. We describe the first case of an anti-recoverin antibody found in the Heidenhain variant CJD who presented with progressive blurred vision then memory deterioration proceeded later. This presentation reinforces the concept that the presence of the anti-recoverin antibody could not exclude the possibility of the Heidenhain variant of CJD in highly suspicious patients with initial isolated visual disturbance.
海登海因变异型克雅氏病（CJD）的特征是在疾病发作时出现孤立的视觉症状，这些症状可能模仿许多眼科疾病。抗恢复蛋白自身抗体可在自身免疫性相关视网膜疾病患者中发现。在海登海因变异型 CJD 的早期阶段，出现这种抗体和视觉症状可能会造成混淆。我们描述了首例海登海因变异型 CJD 患者出现抗恢复蛋白抗体，其表现为进行性视力模糊，随后出现记忆恶化。这种表现强化了一个概念，即在高度疑似的初始孤立性视觉障碍患者中，抗恢复蛋白抗体的存在并不能排除海登海因变异型 CJD 的可能性。
