Zhang Xiaojun, Meagher Sean, Han Min Kyu, Kattah Jorge
Department of Neurology, University of Illinois College of Medicine Peoria, Peoria, Illinois, USA.
Department of Radiology, University of Illinois College of Medicine Peoria, Peoria, Illinois, USA.
Neuroophthalmology. 2021 Dec 22;46(4):248-253. doi: 10.1080/01658107.2021.2006239. eCollection 2022.
We report a case of late-onset Leber's hereditary optic neuropathy (LHON) with concurrent retinal detachment, mild retinal pigment epithelial changes, cataract and hyperintensity on fluid-attenuated inversion recovery magnetic resonance imaging affecting the entire retrobulbar visual pathway. We also documented that progression of the visual field defect correlated with retinal nerve fibre layer and ganglion cell layer-inner plexiform layer changes on optical coherence tomography. Our case provides further understanding of LHON as a disorder of the entire pre-geniculate pathways and also highlights that detailed history taking in addition to recognition of typical sequential optic disc appearance and visual field characteristics at different stages of LHON remain critical even in this era of modern imaging, autoimmune biomarkers and genetic testing.
我们报告一例迟发性Leber遗传性视神经病变（LHON），同时伴有视网膜脱离、轻度视网膜色素上皮改变、白内障以及液体衰减反转恢复磁共振成像上的高信号，累及整个球后视神经通路。我们还记录到，视野缺损的进展与光学相干断层扫描显示的视网膜神经纤维层和神经节细胞层-内丛状层改变相关。我们的病例进一步加深了对LHON作为一种累及整个膝状体前通路疾病的理解，同时也强调，即使在现代成像、自身免疫生物标志物和基因检测的时代，除了认识LHON不同阶段典型的视盘外观顺序和视野特征外，详细的病史采集仍然至关重要。
