International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy
International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy
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DOI：
10.1097/wno.0000000000000570
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发表时间：
2017-12-01
影响因子：
2.9
通讯作者：
Barboni, Piero
中科院分区：
文献类型：
--
作者：
Carelli, Valerio;Carbonelli, Michele;Barboni, Piero
Leber遗传性视神经病变（LHON）是目前估计最常见的线粒体疾病（1 / 27,000-45,000）。其分子发病机制和自然历史现在已相当清楚。LHON也是欧洲医药管理局在特殊情况下批准治疗的第一个线粒体疾病（idebenone-Raxone, Santhera Pharmaceuticals），因为这种疾病的罕见性和严重性。然而，由于缺乏公认的LHON临床管理的定义、标准和一般指南，仍不清楚的包括LHON的最佳目标人群、时间、剂量和给药频率。为了解决这些问题，2016年在意大利米兰与来自欧洲和北美的专家小组举行了一次共识会议。目的是根据现有证据，为LHON的临床和治疗管理提供专家共识声明。我们报告本次会议的结论，为LHON的临床和治疗管理提供指导。(C) 2016年由北美神经眼科学会批准
Leber hereditary optic neuropathy (LHON) is currently estimated as the most frequent mitochondrial disease (1 in 27,000-45,000). Its molecular pathogenesis and natural history is now fairly well understood. LHON also is the first mitochondrial disease for which a treatment has been approved (idebenone-Raxone, Santhera Pharmaceuticals) by the European Medicine Agency, under exceptional circumstances because of the rarity and severity of the disease. However, what remains unclear includes the optimal target population, timing, dose, and frequency of administration of idebenone in LHON due to lack of accepted definitions, criteria, and general guidelines for the clinical management of LHON. To address these issues, a consensus conference with a panel of experts from Europe and North America was held in Milan, Italy, in 2016. The intent was to provide expert consensus statements for the clinical and therapeutic management of LHON based on the currently available evidence. We report the conclusions of this conference, providing the guidelines for clinical and therapeutic management of LHON. (C) 2016 by North American Neuro-Ophthalmology Society