Journal of Neuro-Ophthalmology, December 2012, Volume 32, Issue 4

Visual Improvement With the Use of Idebenone in the Treatment of Wolfram Syndrome

Recently in the Journal of Neuro-Ophthalmology, we discussed the potential efficacy of idebenone, a coen-zyme Q derivative that acts as a carrier in the mitochon-drial electron transport chain, in treating patients with Leber hereditary optic neuropathy (LHON) (1). Within the past 2 decades, Wolfram syndrome (WS) has been mapped to chromosome 4p16.1 (2) and is thought to harbor a mitochondrial genome deletion (3,4) or complex III deficiency (5). The only current treatment for this devastating disease is limited to blood sugar control with lower doses of insulin compared with patients with diabe-tes mellitus (DM). We had the opportunity to treat a patient with WS with idebenone, hoping for improve-ment in visual function. A 21-year-old Romanian man was initially evaluated 5 years previously with progressive bilateral visual and hearing loss and a neurogenic bladder. Surgical history was significant for bilateral cataract extractions with intraocular lens implants at 11 years of age. Medications included insulin and effexor. Family history was significant for DM in both parents, without a history of hearing or visual loss. Genetic testing confirmed the diagnosis of WS with the mutation of the WFS1 Wolframin gene.