关键词: Fundus autofluorescence Imaging Mitochondria Optic neuropathy Optical coherence tomography Optical coherence tomography angiography Retinal dystrophy

Mesh : Humans Mitochondrial Diseases / therapy diagnostic imaging Optic Nerve Diseases / diagnostic imaging diagnosis Retinal Diseases / therapy diagnostic imaging diagnosis Tomography, Optical Coherence / methods Retina / diagnostic imaging

来  源:   DOI:10.1016/j.preteyeres.2024.101264

Abstract:
Advancements in ocular imaging have significantly broadened our comprehension of mitochondrial retinopathies and optic neuropathies by examining the structural and pathological aspects of the retina and optic nerve in these conditions. This article aims to review the prominent imaging characteristics associated with mitochondrial retinopathies and optic neuropathies, aiming to deepen our insight into their pathogenesis and clinical features. Preceding this exploration, the article provides a detailed overview of the crucial genetic and clinical features, which is essential for the proper interpretation of in vivo imaging. More importantly, we will provide a critical analysis on how these imaging modalities could serve as biomarkers for characterization and monitoring, as well as in guiding treatment decisions. However, these imaging methods have limitations, which will be discussed along with potential strategies to mitigate them. Lastly, the article will emphasize the potential advantages and future integration of imaging techniques in evaluating patients with mitochondrial eye disorders, considering the prospects of emerging gene therapies.
摘要:
通过检查这些条件下视网膜和视神经的结构和病理方面,眼部成像的进步显着扩大了我们对线粒体视网膜病变和视神经病变的理解。本文旨在回顾与线粒体视网膜病变和视神经病变相关的突出影像学特征。旨在加深我们对其发病机制和临床特征的了解。在这次探索之前,这篇文章详细概述了关键的遗传和临床特征,这对于正确解释体内成像至关重要。更重要的是,我们将对这些成像模式如何作为表征和监测的生物标志物进行关键分析,以及指导治疗决策。然而,这些成像方法有局限性,这将与减轻它们的潜在策略一起讨论。最后,本文将强调成像技术在评估线粒体眼部疾病患者中的潜在优势和未来整合,考虑到新兴基因疗法的前景。
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