Moorfields Eye Hospital City Road Campus, London, UK.
UCL Institute of Ophthalmology, University College London, London, UK.
Br J Ophthalmol. 2021 Dec;105(12):1623-1631. doi: 10.1136/bjophthalmol-2021-319228. Epub 2021 May 12.
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.
眼科遗传学是一个在过去十年中迅速发展的领域，主要得益于遗传性视网膜疾病（IRD）转化医学的兴起。在这篇综述中，我们将讨论评估 IRD 中视网膜结构的不同客观、准确的方法。我们回顾了这些患者的标准护理成像方法：彩色眼底照相、眼底自发荧光成像和光学相干断层扫描（OCT），以及包括 OCT 血管造影、自适应光学成像、使用多种波长的眼底成像、磁共振成像、激光散斑血流图和视网膜血氧测定等更高分辨率和/或更新的技术，并使用正在进行治疗努力/试验的范例基因型来说明它们的效用。
