日本全国性的Leber遗传性视神经病变流行病学调查。
Nationwide epidemiological survey of Leber hereditary optic neuropathy in Japan.
作者信息
Ueda Kaori, Morizane Yuki, Shiraga Fumio, Shikishima Keigo, Ishikawa Hitoshi, Wakakura Masato, Nakamura Makoto
机构信息
Division of Ophthalmology, Department of Surgery, Kobe University Graduate School of Medicine, Kobe, Japan.
Department of Ophthalmology, Okayama University Graduate School of Medicine, Okayama, Japan.
出版信息
J Epidemiol. 2017 Sep;27(9):447-450. doi: 10.1016/j.je.2017.02.001. Epub 2017 Apr 6.
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 (I) 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. I was 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.
CONCLUSION
Approximately 120 cases of newly developed LHON were reported during 2014 in Japan, and 93.2% were males.
背景
Leber遗传性视神经病变（LHON）是一种母系遗传的视神经病变，主要导致年轻男性的中心视力丧失。大多数LHON病例在线粒体DNA（mtDNA）中存在三种主要点突变之一。日本LHON的年发病率和患病率尚不清楚。因此，我们估计了2014年日本分子确诊的LHON的年发病率。
方法
向1397家机构发送了连续调查问卷，其中包括日本所有的大学医院，这些机构均由日本眼科学会或日本神经眼科学会认证。我们将发病率（I）计算为2014年发生LHON的患者数量及其95%置信区间。
结果
我们收到了对第一份调查问卷的861份回复，其中49家机构报告了2014年新发生的72例LHON病例（67例为男性，5例为女性）。计算出的I为117，95%置信区间为81至153。对于第二份调查问卷，收到了30家机构的回复，其中男性发病的中位年龄为38岁，女性为30岁，86.5%的病例携带mtDNA ND4/G11778A突变。
结论
2014年日本报告了约120例新发生的LHON病例，其中93.2%为男性。
Zotero 插件