Visual recovery in a patient with Leber hereditary optic neuropathy and the 14484 mutation

Leber hereditary optic neuropathy (LHON) is characterized by an acute, painless, sequentially bilateral reduction in vision that usually occurs in young men. It is a maternally inherited mitochondrial genetic disease. This case report details the chronology of the bilateral vision loss of a patient found to have LHON with a mutation at nucleotide site 14484. A spontaneous recovery of visual acuity and decrease in disability occurred without a corresponding improvement in color vision, contrast sensitivity, or pattern visual evoked potential (VEP's) over a period of 6 years. The abnormal pattern VEP's were one of the indicators of the neural damage to the spatial frequency channels of the visual system. The normal flash VEP's, as determined by the critical frequency of photic driving (CFPD), suggested that most of the fibers in the luminance channels were unaffected by LHON.