Department of Ophthalmology Shiyan, Hubei University of Medicine - Taihe Hospital, Hubei. China.
Department of Ophthalmology, Tongji Medical College, Huazhong University of Science and Technology - Tongji Hospital, Wuhan Shi. China.
Curr Gene Ther. 2017;17(4):320-326. doi: 10.2174/1566523218666171129204926.
Leber's Optic Hereditary Neuropathy (LHON) is a common cause of teenaged blindness in both eyes for which there is currently no effective treatment. In 1871, the German ophthalmologist Theodor Leber was the first to describe the clinical characteristics of his namesake disease, and through unremitting efforts over the past 100 years, researchers have continued to increase their understanding of LHON. In recent years, using gene therapy, several groups have obtained breakthroughs in the treatment of the disease.
In this article, we will review the challenging journey that researchers faced towards our current understanding of LHON, and describe the transition of gene therapy research for LHON from the bench to bedside.
Leber 遗传性视神经病变(LHON)是青少年双眼失明的常见原因,目前尚无有效治疗方法。1871 年,德国眼科医生 Theodor Leber 首次描述了他同名疾病的临床特征,在过去的 100 年里,研究人员通过不懈的努力,不断加深对 LHON 的认识。近年来,通过基因治疗,多个研究小组在治疗该病方面取得了突破性进展。
本文将回顾研究人员在认识 LHON 方面所面临的挑战,并描述 LHON 基因治疗研究从实验室到临床的转变。