title: Nationwide epidemiological survey of Leber hereditary optic neuropathy in Japan.
abstract: BACKGROUND
  Leber hereditary optic neuropathy (LHON) is a maternally inherited optic neuropathy that leads to central loss of vision, predominantly in young males. Most LHON cases have one of three primary point mutations in mitochondrial DNA (mtDNA). The annual incidence and prevalence of LHON in Japan are not known. Thus, we estimated the annual incidence of molecularly confirmed LHON in Japan during 2014.
  
  
  METHODS
  Sequential questionnaires were sent to 1397 facilities, which included all of the university hospitals in Japan, and they were certified by either the Japanese Ophthalmological Society or the Japanese Neuro-Ophthalmological Society. We calculated the incidence number (Ir) as the number of patients who developed LHON in 2014 and its 95% confidence interval.
  
  
  RESULTS
  We received 861 responses to the first questionnaire, where 49 facilities reported 72 cases (67 were male and 5 were female) of newly developed LHON during 2014. Irwas calculated as 117, and the 95% confidence interval ranged from 81 to 153. For the second questionnaire, responses were received from 30 facilities, where the median age at onset was 38 years for males and 30 years for females, and 86.5% of cases possessed the mtDNA ND4/G11778A mutation.
  
  
  CONCLUSIONS
  Approximately 120 cases of newly developed LHON were reported during 2014 in Japan, and 93.2% were males.
authors.affiliation: Division of Ophthalmology, Department of Surgery, Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Kaori
authors.initials: K
authors.lastname: Ueda
authors.affiliation: Department of Ophthalmology, Okayama University Graduate School of Medicine, Okayama, Japan.
authors.forename: Yuki
authors.initials: Y
authors.lastname: Morizane
authors.affiliation: Department of Ophthalmology, Okayama University Graduate School of Medicine, Okayama, Japan.
authors.forename: Fumio
authors.initials: F
authors.lastname: Shiraga
authors.affiliation: Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Keigo
authors.initials: K
authors.lastname: Shikishima
authors.affiliation: Department of Orthoptics and Visual Science, School of Allied Health Sciences, Kitasato University, Sagamihara, Kanagawa, Japan.
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Ishikawa
authors.affiliation: Inouye Eye Hospital, Tokyo, Japan.
authors.forename: Masato
authors.initials: M
authors.lastname: Wakakura
authors.affiliation: Division of Ophthalmology, Department of Surgery, Kobe University Graduate School of Medicine, Kobe, Japan. Electronic address: manakamu@med.kobe-u.ac.jp.
authors.forename: Makoto
authors.initials: M
authors.lastname: Nakamura
mesh_terms: D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D006306:Health Surveys; D006801:Humans; D015994:Incidence; D007564:Japan / Q000453:epidemiology; D008297:Male; D009154:Mutation; D029242:Optic Atrophy, Hereditary, Leber / Q000453:epidemiology* / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial
keywords: Annual incidence; Gender proportion; Leber hereditary optic neuropathy; Mitochondrial DNA; Penetrance