Late-Onset Leber's Hereditary Optic Neuropathy with Concurrent Retinal Detachment and Retrobulbar Visual Pathway Involvement

晚发型莱伯氏遗传性视神经病变伴视网膜脱离和球后视觉通路受累

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Abstract

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.

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