TY - JOUR
T1 - International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy
AU - Carelli, Valerio
AU - Carbonelli, Michele
AU - de Coo, Irenaeus F
AU - Kawasaki, Aki
AU - Klopstock, Thomas
AU - Lagrèze, Wolf A
AU - La Morgia, Chiara
AU - Newman, Nancy J
AU - Orssaud, Christophe
AU - Pott, Jan Willem R
AU - Sadun, Alfredo A
AU - van Everdingen, Judith
AU - Vignal-Clermont, Catherine
AU - Votruba, Marcela
AU - Yu-Wai-Man, Patrick
AU - Barboni, Piero
PY - 2017/12
Y1 - 2017/12
N2 - 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.
AB - 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.
KW - Antioxidants/therapeutic use
KW - Congresses as Topic
KW - Consensus
KW - Disease Management
KW - Humans
KW - International Cooperation
KW - Ophthalmology
KW - Optic Atrophy, Hereditary, Leber/drug therapy
KW - Societies, Medical
KW - Ubiquinone/analogs & derivatives
U2 - 10.1097/WNO.0000000000000570
DO - 10.1097/WNO.0000000000000570
M3 - Comment/debate
C2 - 28991104
SN - 1070-8022
VL - 37
SP - 371
EP - 381
JO - Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
JF - Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
IS - 4
ER -