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

TLDR

Leber hereditary optic neuropathy is the most common mitochondrial disease, its pathogenesis and natural history are well understood, it is the first mitochondrial disorder with an approved treatment (idebenone), yet optimal target population, timing, dose, and frequency remain unclear due to lack of guidelines. The conference aimed to produce expert consensus statements on the clinical and therapeutic management of LHON based on current evidence. A consensus conference of European and North American experts convened in Milan in 2016 to address these issues. The resulting guidelines outline recommendations for the clinical and therapeutic management of LHON.

Abstract

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.