Ophthalmic genetics is a field that has been rapidly evolving over the last decade, mainly due to the flourishing of translational medicine for inherited retinal diseases (IRD). In this review, we will address the different methods by which retinal structure can be objectively and accurately assessed in IRD. We review standard-of-care imaging for these patients: colour fundus photography, fundus autofluorescence imaging and optical coherence tomography (OCT), as well as higher-resolution and/or newer technologies including OCT angiography, adaptive optics imaging, fundus imaging using a range of wavelengths, magnetic resonance imaging, laser speckle flowgraphy and retinal oximetry, illustrating their utility using paradigm genotypes with on-going therapeutic efforts/trials.

中文翻译：

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遗传性视网膜疾病的结构评估

眼科遗传学是一个在过去十年中迅速发展的领域，主要是由于遗传性视网膜疾病 (IRD) 转化医学的蓬勃发展。在这篇综述中，我们将讨论在 IRD 中可以客观准确地评估视网膜结构的不同方法。我们回顾了这些患者的标准护理成像：彩色眼底摄影、眼底自发荧光成像和光学相干断层扫描 (OCT)，以及更高分辨率和/或更新的技术，包括 OCT 血管造影、自适应光学成像、使用波长范围、磁共振成像、激光散斑血流图和视网膜血氧饱和度，说明它们使用范式基因型和正在进行的治疗工作/试验的效用。