Division of Ophthalmology, Department of Surgery, Kobe University Graduate School of Medicine, 7-5-2, Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.
Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands.
Orphanet J Rare Dis. 2022 Aug 20;17(1):319. doi: 10.1186/s13023-022-02478-4.
Leber hereditary optic neuropathy (LHON) is an acute or subacute optic neuropathy that mainly affects young males. The first nationwide epidemiological survey of LHON was conducted in 2014 in Japan, and LHON was officially designated as a rare intractable disease by the Japanese government in 2015. We conducted a second survey of the annual incidence of LHON in 2019, and estimated the total number of patients with LHON in Japan.
A questionnaire was sent to 997 facilities accredited by the Japanese Ophthalmological Society and/or affiliated with the councilors of the Japanese Neuro-Ophthalmology Society. Responses were received from 791 facilities, with a response rate of 79%. Fifty-five newly diagnosed cases (49 males and 6 females) of LHON were reported from 35 institutions in 2019, with a median age of 28.5 for males and 49.5 years for females. The total number of newly diagnosed cases was calculated as 69 (62 were males and 7 were females, 95% confidence interval 55-83), and the total number of patients was estimated to be 2491 (95% confidence interval: 1996-2986), suggesting a prevalence of LHON in Japan of 1:50,000.
The incidence of LHON in 2019 was lower than the estimate in 2014, whereas its prevalence may be similar to that reported in other countries. The accurate estimation of the incidence and prevalence of patients with LHON requires prospective registration.
Leber 遗传性视神经病变（LHON）是一种主要影响年轻男性的急性或亚急性视神经病变。2014 年在日本进行了首次全国性 LHON 流行病学调查，2015 年日本政府正式将 LHON 列为罕见难治性疾病。我们在 2019 年进行了第二次 LHON 年发病率调查，并估计了日本 LHON 患者的总数。
向日本眼科协会认可的 997 家医疗机构和/或日本神经眼科学会顾问附属机构发送了一份问卷。来自 2019 年 35 家机构的 791 家机构做出了回应，回应率为 79%。2019 年，35 家机构报告了 55 例新诊断的 LHON 病例（49 名男性和 6 名女性），男性的中位年龄为 28.5 岁，女性为 49.5 岁。新诊断病例总数为 69 例（62 例为男性，7 例为女性，95%置信区间 55-83），患者总数估计为 2491 例（95%置信区间：1996-2986），提示日本 LHON 的患病率为 1:50000。
2019 年 LHON 的发病率低于 2014 年的估计值，但其患病率可能与其他国家报告的相似。LHON 患者发病率和患病率的准确估计需要前瞻性登记。
