title: Visual recovery in a man with the rare combination of mtDNA 11778 LHON mutation and a MS-like disease after mitoxantrone therapy.
abstract: We describe a young man with prognostic unfavourable homoplasmatic mitochondrial DNA(mt DNA) 11778 Leber's hereditary optic neuropathy (LHON) point mutation and confirmed multiple sclerosis (MS). This combination of LHON and MS-like disease is rare in both sexes, and in men has been described in only a few case reports. In a 4-year follow-up during immunosuppressive therapy with mitoxantrone, we found a remarkable time delayed visual recovery 12 months after acute onset of rapid sequential bilateral subtotal visual loss followed by episodes of isolated acute demyelinative optic neuropathy. Visual recovery to such extent after this latency is uncommon in both mtDNA 11778 LHON mutation and optic neuritis (ON) in MS. Relapses in visual deterioration must be considered as extremely rare in LHON. This case might support the hypothesis of an immunological pathogenetic factor in combined LHON and MS, and possibly in LHON alone. We suggest a search for the LHON mutation in MS patients with predominant visual impairment, independent of patients' gender.
authors.affiliation: Department of Neurology, University Hospital Eppendorf, Hamburg, Germany. buhmann@uke.uni-hamburg.de
authors.forename: C
authors.initials: C
authors.lastname: Buhmann
authors.forename: J
authors.initials: J
authors.lastname: Gbadamosi
authors.forename: C
authors.initials: C
authors.lastname: Heesen
mesh_terms: D000293:Adolescent; D001766:Blindness / Q000188:drug therapy* / Q000209:etiology / Q000503:physiopathology; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use*; D008297:Male; D008942:Mitoxantrone / Q000627:therapeutic use*; D009103:Multiple Sclerosis / Q000150:complications / Q000188:drug therapy*; D029242:Optic Atrophy, Hereditary, Leber / Q000150:complications / Q000188:drug therapy* / Q000235:genetics; D017354:Point Mutation; D020127:Recovery of Function / Q000187:drug effects*; D016896:Treatment Outcome; D014792:Visual Acuity
chemical_list: D004272:DNA, Mitochondrial; D007166:Immunosuppressive Agents; D008942:Mitoxantrone