Department of Ophthalmology, University of Auckland, Private Bag 92019, Auckland 1142, New Zealand.
Centre for Brain Research, University of Auckland, Private Bag 92019, Auckland 1142, New Zealand.
Nat Rev Neurol. 2014 Jun;10(6):349-62. doi: 10.1038/nrneurol.2014.79. Epub 2014 May 20.
Ophthalmic findings are common features of neurodegenerative disorders and, in addition to being clinically important, have emerged as potentially useful biomarkers of disease progression in several conditions. Clinically, these visual system abnormalities can be a clue to diagnosis, as well as being a prominent cause of disability in affected patients. In this Review, we describe the various afferent visual system and other ophthalmic features of inherited neurodegenerative disorders, including the muscular dystrophies, Friedreich ataxia, the spinocerebellar ataxias, hereditary spastic paraplegia, Charcot-Marie-Tooth disease, and other conditions. We focus on the expanding role of optical coherence tomography in diagnostic imaging of the retina and optic nerve head, and the possible use of ophthalmic findings as biomarkers of disease severity in hereditary neurodegenerative disorders. In addition, we discuss the ophthalmic manifestations and treatment implications of mitochondrial dysfunction, which is a feature of many inherited neurodegenerative diseases.
眼科发现是神经退行性疾病的常见特征，除了具有临床重要性外，在几种情况下已成为疾病进展的潜在有用生物标志物。临床上，这些视觉系统异常可能是诊断的线索，也是受影响患者残疾的主要原因。在这篇综述中，我们描述了遗传性神经退行性疾病的各种传入视觉系统和其他眼科特征，包括肌肉营养不良、弗里德里希共济失调、脊髓小脑共济失调、遗传性痉挛性截瘫、Charcot-Marie-Tooth 病和其他疾病。我们专注于光相干断层扫描在视网膜和视神经头诊断成像中的扩展作用，以及眼科发现作为遗传性神经退行性疾病疾病严重程度的生物标志物的可能性。此外，我们还讨论了线粒体功能障碍的眼科表现和治疗意义，线粒体功能障碍是许多遗传性神经退行性疾病的特征。
