Visual loss and recovery in a patient with Friedreich ataxia

A 15-year-old boy with genetically confirmed Friedreich ataxia had binocula r; painless loss of visual acuity and visual field over 6 months. This was attributed to optic neuropathy on the basis of normal multifocal electroret inography (MERG) and development of optic disc pallor. Magnetic resonance i maging of the brain and orbits was normal. Approximately 10 months after th e onset of visual loss, the patient noted spontaneous improvement that was documented by visual acuity and visual field testing. To our knowledge, thi s is the first reported case of marked visual loss with partial recovery in genetically confirmed Friedreich ataxia and the first recording of a MERG in such a patient.