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Mitochondrial retinopathies and optic neuropathies: The impact of retinal imaging on modern understanding of pathogenesis, diagnosis, and management
Progress in Retinal and Eye Research ( IF 17.8 ) Pub Date : 2024-05-03 , DOI: 10.1016/j.preteyeres.2024.101264
Enrico Borrelli , Francesco Bandello , Camiel J.F. Boon , Valerio Carelli , Guy Lenaers , Michele Reibaldi , Srinivas R. Sadda , Alfredo A. Sadun , David Sarraf , Patrick Yu-Wai-Man , Piero Barboni

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 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.

中文翻译:


线粒体视网膜病变和视神经病变:视网膜成像对现代理解发病机制、诊断和治疗的影响



眼部成像技术的进步通过检查线粒体视网膜病变和视神经病变的结构和病理学方面,显着拓宽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显着影像学特征,旨在加深我们对其发病机制和临床特征的了解。在进行这项探索之前,本文详细概述了关键的遗传和临床特征,这对于正确解释影像学至关重要。更重要的是,我们将对这些成像方式如何作为生物标志物进行表征和监测以及指导治疗决策进行批判性分析。然而,这些成像方法具有局限性,我们将讨论这些局限性以及缓解这些局限性的潜在策略。最后,考虑到新兴基因疗法的前景,本文将强调成像技术在评估线粒体眼部疾病患者方面的潜在优势和未来整合。
更新日期:2024-05-03
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