Leber遗传性视神经病的病理机制与治疗

Leber遗传性视神经病是由于线粒体基因突变导致的母系遗传性常见致盲眼疾。该病在发病率及突变位点中存在种族差异,不同突变位点间存在着不同比率的自发恢复现象。所谓的自发恢复现象尚待长期观察证实。由于线粒体基因的遗传特征的复杂性使该病发病机制及其病理生理机制不清。现今Leber遗传性视神经病尚无成功的动物模型,亦无明确有效的治疗方法。包括针灸在内的中医药疗法可能在该病的临床治疗中发挥重要作用。

Pathogenesis and Therapy of Lebers Hereditary Optic Neuropathy

Leber's hereditary optic neuropathy ( LHON) , a common blinding disease, is a maternally inherited degeneration of the optic nerve caused by point mutations of mitochondrial DNA. LHON incidence and mutation site are different in different races and geographic regions. Spontaneous recovery is reportedil direrse in different mutable points, but the so-called spontaneous recovery remains to be further investigated by long term clinical study and follow up. The detailed pathogenesis and pathophysiological mechanism of LHON are still unclear due partially to the complicated inheritance. Currently there is neither animal model yet mimicking the devastating disease for fundamental research nor are there promising and recommended therapies clinically. Traditional Chinese medicine including acupuncture may play an important role in the clinical treatment of the disease.