PURPOSE To study the demographics of Leber's hereditary optic neuropathy (LHON) using a large international database of people affected by LHON. DESIGN Cross-sectional study. PARTICIPANTS One thousand five hundred seventeen people affected by LHON with a known pathogenic genetic mutation. METHODS Self-reported genetic and demographic data were collected. The data were de-identified and then analyzed. MAIN OUTCOME MEASURES Leber's hereditary optic neuropathy mutation, gender, age at vision loss onset, and geographical region. RESULTS The data showed that both females and males can experience symptom onset at any age. We found a 3:1 male-to-female ratio. Interestingly, at younger than 5 years and older than 45 years, the male-to-female ratio of those becoming affected was approximately 1:1. A dramatic peak in age at onset of vision loss was found among males between 14 and 26 years of age. Disease onset in females occurred across all age groups, without any comparable dramatic peak of onset age. This study found that 10% of individuals become affected with LHON after 50 years of age. According to the literature, we found that the m.11778, m.14484, and m.3460 mutations were the most common LHON point mutations in both males and females, with a similar age at onset distribution. CONCLUSIONS This was the largest study of LHON demographics to date. It showed that women carrying an LHON mutation are at higher risk of losing vision than is generally expected. Unlike the traditional 5:1 male-to-female ratio commonly reported in the literature, we found a 3:1 male-to-female ratio. Earlier studies may have harbored an ascertainment bias of overemphasizing the confirmation of this being a disease of young men. However, our data suggest that LHON is a disease that affects both females and males of all ages. This should prompt physicians to conduct genetic testing for LHON in all patients who meet the clinical criteria, regardless of whether they fit the demographics traditionally associated with the disease. Counseling about LHON should be offered to all maternal bloodline relatives, females and males of all ages, because they are at risk of sudden-onset legal blindness.

中文翻译：

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莱伯遗传性视神经病变影响的大量国际患者的人口统计学特征。

目的使用大型国际LHON患者数据库研究Leber的遗传性视神经病变（LHON）的人口统计资料。设计横断面研究。参与者受到已知致病性遗传突变的LHON感染的151例患者。方法收集自我报告的遗传和人口统计学数据。取消识别数据，然后进行分析。主要观察指标莱伯的遗传性视神经病变突变，性别，视力丧失发病年龄和地理区域。结果数据显示，无论男女，任何年龄均可出现症状。我们发现男女比例为3：1。有趣的是，在5岁以下和45岁以上的年龄段，受影响人群的男女比例约为1：1。在14至26岁之间的男性中，出现视力丧失时的年龄达到了惊人的高峰。女性的疾病发作发生在所有年龄段，发病年龄没有任何可比的显着高峰。这项研究发现，有10％的人在50岁以后会受到LHON的影响。根据文献，我们发现m.11778，m.14484和m.3460突变是男性和女性中最常见的LHON点突变，发病年龄相似。结论这是迄今为止LHON人口统计学的最大研究。结果表明，携带LHON突变的女性视力丧失的风险比一般预期的要高。与文献中通常报道的传统的5：1男女比例不同，我们发现男女比例为3：1。较早的研究可能带有确定性偏见，即过分强调对这是年轻人的疾病的确认。但是，我们的数据表明LHON是一种会影响所有年龄段的女性和男性的疾病。这应该促使医师对所有符合临床标准的患者进行LHON的基因检测，无论他们是否符合传统上与该疾病相关的人口统计学信息。应向所有年龄段的所有产妇血统亲属，女性和男性提供有关LHON的咨询，因为他们有可能突然发生法律失明的风险。这应该促使医师对所有符合临床标准的患者进行LHON的基因检测，无论他们是否符合传统上与该疾病相关的人口统计学信息。应向所有年龄段的所有产妇血统亲属，女性和男性提供有关LHON的咨询，因为他们有可能突然发生法律失明的风险。这应该促使医师对所有符合临床标准的患者进行LHON的基因检测，无论他们是否符合传统上与该疾病相关的人口统计学信息。应向所有年龄段的所有产妇血统亲属，女性和男性提供有关LHON的咨询，因为他们有可能突然发生法律失明的风险。