International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy

被引：170

作者：

Carelli, Valerio ^{[1
,2
]}

Carbonelli, Michele ^{[1
]}

de Coo, Irenaeus F. ^{[3
]}

Kawasaki, Aki ^{[4
]}

Klopstock, Thomas ^{[5
,6
,7
]}

Lagreze, Wolf A. ^{[8
]}

La Morgia, Chiara ^{[1
,2
]}

Newman, Nancy J. ^{[9
,10
]}

Orssaud, Christophe ^{[11
]}

Pott, Jan Willem R. ^{[12
]}

Sadun, Alfredo A. ^{[13
,14
]}

van Everdingen, Judith ^{[15
,16
]}

Vignal-Clermont, Catherine ^{[17
]}

Votruba, Marcela ^{[18
,19
]}

Yu-Wai-Man, Patrick ^{[20
,21
,22
,23
,24
]}

Barboni, Piero ^{[25
,26
]}

机构：

[1] Bellaria Hosp, IRCCS Inst Neurol Sci Bologna, Via Altura 3, I-40139 Bologna, Italy

[2] Univ Bologna, Dept Biomed & Neuromotor Sci DIBINEM, Unit Neurol, Bologna, Italy

[3] Erasmus MC, Dept Neurol, Rotterdam, Netherlands

[4] Univ Lausanne, Jules Gonin Eye Hosp, Neuroophthalmol Unit, Lausanne, Switzerland

[5] Ludwing Maximilians Univ, Friedreich Baur Inst, Dept Neurol, Munich, Germany

[6] Munich Cluster Syst Neurol SyNergy, Munich, Germany

[7] German Ctr Neurodegenerat Dis DZNE, Munich, Germany

[8] Univ Freiburg, Fac Med, Med Ctr, Eye Ctr, Breisgau, Germany

[9] Emory Univ, Sch Med, Dept Ophthalmol, Atlanta, GA 30322 USA

[10] Emory Univ, Sch Med, Dept Neurol & Neurol Surg, Atlanta, GA USA

[11] Assistance Publ Hopitaux Paris, Hop Europeen Georges Pompidou, Referral Ctr Rare Dis OPHTARA, Dept Ophthalmol, Paris, France

[12] Univ Groningen, Univ Med Ctr Groningen, Dept Ophthalmol, Groningen, Netherlands

[13] Doheny Eye Inst, 1355 San Pablo St, Los Angeles, CA 90033 USA

[14] Univ Calif Los Angeles, David Geffen Sch Med, Dept Ophthalmol, Los Angeles, CA 90095 USA

[15] Rotterdam Eye Hosp, Dept Neuroophthalmol, Rotterdam, Netherlands

[16] ROI, Rotterdam, Netherlands

[17] Fondat Ophtalmol Adolphe Rothschild, Paris, France

[18] Cardiff Univ, Sch Optometry & Vis Sci, Cardiff, S Glam, Wales

[19] Univ Wales Hosp, Cardiff Eye Clin, Cardiff, S Glam, Wales

[20] Newcastle Univ, Inst Genet Med, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne, Tyne & Wear, England

[21] Royal Victoria Infirm, Newcastle Eye Ctr, Newcastle Upon Tyne, Tyne & Wear, England

[22] Moorfields Eye Hosp, NIHR Biomed Res Ctr, London, England

[23] UCL, Inst Ophthalmol, London, England

[24] Univ Cambridge, Sch Clin Med, Dept Clin Neurosci, Cambridge, England

[25] Ist Sci San Raffaele, Dept Ophthalmol, Milan, Italy

[26] Studio Oculist dAzeglio, Bologna, Italy

来源：

JOURNAL OF NEURO-OPHTHALMOLOGY | 2017年 / 37卷 / 04期

关键词：

MITOCHONDRIAL-DNA MUTATION; FIBER LAYER EVALUATION; COLOR-VISION DEFECTS; NERVE-FIBER; ASYMPTOMATIC CARRIERS; VISUAL RECOVERY; OPHTHALMOSCOPIC FINDINGS; COHERENCE TOMOGRAPHY; MTDNA MUTATIONS; FUNDUS FINDINGS;

D O I：

10.1097/WNO.0000000000000570

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

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

引用

页码：371 / 381

页数：11

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