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 occ urs in young men. It is a maternally inherited mitochondrial genetic d isease. This case report details the chronology of the bilateral visio n loss of a patient found to have LHON with a mutation at nucleotide s ite 14484. A spontaneous recovery of visual acuity and decrease in dis ability 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 indica tors of the neural damage to the spatial frequency channels of the vis ual system. The normal flash VEP's, as determined by the critical freq uency of photic driving (CFPD), suggested that most of the fibers in t he luminance channels were unaffected by LHON.