Leber’s Hereditary Optic Neuropathy associated with cocaine, ecstasy and telithromycin consumption
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Sirs: Leber’s hereditary optic neuropathy (LHON) is a matrilinear disorder characterised by acute to subacute bilateral optic neuropathy, mostly affecting young males at variable age of onset. More than 90% of patients harbour one of the three pathogenic mitochondrial DNA (mtDNA) mutations: 3,460, 11,778, and 14,484, all in genes encoding subunits of respiratory chain complex I. In most patients visual loss is severe and permanent, though spontaneous recovery of central vision may occur, particularly in patients with the 14,484 mutation.
Expressivity is 100% and penetrance variable, suggesting that secondary etiological factors are involved .
KeywordsCocaine Ecstasy Telithromycin Increase Reactive Oxygen Species Production Retinal Ganglion Cell
Research was partly supported by a grant from University of Siena and Regione Toscana to AF.
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