Incidence of Leber hereditary optic neuropathy in 2019 in Japan: a second nationwide questionnaire survey

• DOI: 10.1186/s13023-022-02478-4
• Publication Date: 2022-08-20T06:03:41Z
• Authors: Fumio Takano; Kaori Ueda; Daniel A. Godefrooij; Akiko Yamagami; Hiroto Ishikawa; Hideki Chuman; Hitoshi Ishikawa; Yasuhiro Ikeda; Taiji Sakamoto; Makoto Nakamura
• Keywords: Male; Epidemiology; Annual incidence; Research; Incidence; R; Intractable disease; Optic Atrophy, Hereditary, Leber; DNA, Mitochondrial; Mitochondrial DNA; 3. Good health; 03 medical and health sciences; 0302 clinical medicine; Japan; Surveys and Questionnaires; Mutation; Prevalence; Medicine; Humans; Female; Prospective Studies; Leber hereditary optic neuropathy

Abstract Background Leber hereditary optic neuropathy (LHON) is an acute or subacute that mainly affects young males. The first nationwide epidemiological survey of LHON was conducted in 2014 Japan, and officially designated as a rare intractable disease by the Japanese government 2015. We second annual incidence 2019, estimated total number patients with Japan. Results A questionnaire sent to 997 facilities accredited Ophthalmological Society and/or affiliated councilors Neuro-Ophthalmology Society. Responses were received from 791 facilities, response rate 79%. Fifty-five newly diagnosed cases (49 males 6 females) reported 35 institutions median age 28.5 for 49.5 years females. calculated 69 (62 7 females, 95% confidence interval 55–83), be 2491 (95% interval: 1996–2986), suggesting prevalence Japan 1:50,000. Conclusion 2019 lower than estimate 2014, whereas its may similar other countries. accurate estimation requires prospective registration.