Use of idebenone in Leber’s Hereditary Optic Neuropathy – a case presentation and mini review of Idebenone treatment endpoints

Abstract

Leber’s hereditary optic neuropathy (LHON) is the first mitochondrial disease defined, by Von Graefe in 1958 [1]. It is also the first maternally inherited disease discovered. Sudden painless central visual field loss in young patients especially in their 2nd/3rd decades is its classical presentation [1]. A progressive vision loss, especially with a typical cecocentral scotoma should arise a suspicion of this hereditary optic neuritis. Young males are effected the most (10-20% females) and a subacute vision loss in fellow eye develops soon during the disease. Stress, alcohol, smoking, caffeine, head trauma, menopause or postpartum estrogen are thought to be the mostly known triggering factors [1, 2]. Exact diagnosis is by genetical testing for the mitochondrial mutations determined for LHON. Three point mutations within the mitochondrial genome (primary mutations); m.3460 G>A (MTND1) m.11778G>A (MTND4), and m.14484 T>C (MTND6), make up about 90% of all LHON cases. Steroids and B12 replacement have no established effect in the treatment of the disease but recent studies proved that antioxidant treatments like Coenzyme Q10 may have a critical role for these cases by way of impairing live but inactive neurons [2]. A short chain synthetic analog of Coenzyme Q10, called Idebenone has now a novel use for the treatment of this disease and nearly total recovery of patients can be observed in most of the patients during Idebenone treatment apart from the mutation type, besides a high rate of spontaneous recovery which can be seen by some good prognostic mutations of the disease [2-4]. In a pediatric case of Leber’s Hereditary Optic Neuropathy (LHON), who was admitted to our ophthalmology clinic suffering from progressive loss of vision in her left eye, total visual recovery was seen by use of Idebenon. On admission she had no history of trauma, no recent infection or no acute/chronic medications reported to be used. Her best corrected visual acuity (BCVA) was 20/20 on the right and 20/200 on left side. She had no RAPD, but impaired color vision and prolonged VEP p100 latency on left side. She had normal slit lamp and fundoscopic examination. USE OF IDEBENONE IN LEBER’S HEREDITARY OPTIC NEUROPATHY – A CASE PRESENTATION AND MINI REVIEW OF IDEBENONE TREATMENT ENDPOINTS