Prion diseases are invariably fatal neurodegenerative disorders that have gained much publicity due to their transmissible nature. Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common human prion disorder, with an incidence of 1 in a million. Inherited prion disorders are relatively rare, and associated with mutations in the prion protein gene. More than 50 different point mutations, deletions, and insertions have been identified so far. Most are autosomal dominant and fully penetrant. Prion disorders also occur in animals, and are of major concern because of the potential for spreading to humans. The principal pathogenic event underlying all prion disorders is a change in the conformation of prion protein (PrP^C) from a mainly α-helical to a β-sheet rich isoform, PrP-scrapie (PrP^Sc). Accumulation of PrP^Sc in the brain parenchyma is the major cause of neuronal degeneration. The mechanism by which PrP^Sc is transmitted, propagates, and causes neurodegenerative changes has been investigated over the years, and several clues have emerged. Efforts are also ongoing for identifying specific and sensitive diagnostic tests for sCJD and animal prion disorders, but success has been limited. The eye is suitable for these evaluations because it shares several anatomical and physiological features with the brain, and can be observed in vivo during disease progression. The retina, considered an extension of the central nervous system, is involved extensively in prion disorders. Accordingly, Optical Coherence Tomography and electroretinogram have shown some promise as pre-mortem diagnostic tests for human and animal prion disorders. However, a complete understanding of the physiology of PrP^C and pathobiology of PrP^Sc in the eye is essential for developing specific and sensitive tests. Below, we summarize recent progress in ocular physiology and pathology in prion disorders, and the eye as an anatomically accessible site to diagnose, monitor disease progression, and test therapeutic options.

朊病毒病总是致命的神经退行性疾病，因其可传播的性质而广为人知。散发性克雅氏病 (sCJD) 是最常见的人类朊病毒疾病，发病率为百万分之一。遗传性朊病毒病相对罕见，并且与朊病毒蛋白基因突变有关。迄今为止，已经鉴定了 50 多种不同的点突变、缺失和插入。大多数是常染色体显性遗传和完全外显。朊病毒病也发生在动物身上，并且由于可能传播给人类而受到主要关注。主要致病事件的所有朊病毒病底层是在朊病毒蛋白的构象（PRP的变化^Ç到β折叠丰富的同种型，PRP-痒病）从主要α螺旋（PRP^钪）。PrP ^Sc在脑实质中的积累是神经元变性的主要原因。多年来，人们一直在研究PrP ^Sc的传播、传播和引起神经退行性变化的机制，并且已经出现了一些线索。还在努力确定 sCJD 和动物朊病毒疾病的特异性和敏感诊断测试，但成功有限。眼睛适用于这些评估，因为它与大脑共享几个解剖和生理特征，并且可以在体内观察在疾病进展过程中。视网膜被认为是中枢神经系统的延伸，广泛参与朊病毒疾病。因此，光学相干断层扫描和视网膜电图已显示出作为人类和动物朊病毒疾病的死前诊断测试的一些希望。然而，全面了解 PrP ^C的生理学和 PrP ^Sc在眼中的病理学对于开发特定和敏感的测试至关重要。下面，我们总结了朊病毒疾病眼部生理学和病理学的最新进展，并将眼睛作为解剖学上可接近的部位来诊断、监测疾病进展和测试治疗方案。