Abstract：
Leber\'s hereditary optic neuropathy (LHON), the most common mitochondrial optic neuropathy, causes visual loss, especially in young adults. Due to the absence of epidemiological data in Southeast Asia, we aimed to determine Thai LHON patients\' characteristics (demographic data, mutation types, and prognoses) as the first study in this region.
This retrospective chart review enrolled all Thai LHON patients confirmed by three mitochondrial DNA mutations (G11778A, T14484C, and G3460A) between January 1997 and December 2016. Patients with more than one year of follow-up were included in a visual progression analysis. The Mann-Whitney U-test was applied to compare groups, and prognosis-associated factors were analysed with the generalized estimating equation.
In all, 229 patients were enrolled, with only nineteen females. Most mutations were of the G11778A type (91%), with T14484C accounting for the remainder. The age at onset of G11778A (21.9 years; interquartile range [IQR] 14.9, 33.5) was younger than that of T14484C (33.0 years; IQR 19.4, 37.5). Of 45 patients, the T14484C group demonstrated good vision recovery, whereas the G11778A group did not improve (difference in logMAR -0.7 and IQR -1.5, -0.2 versus logMAR 0.0 and IQR -0.3, 0.2, respectively; P value .001). The G11778A mutation, male, and older age were related to poor prognoses.
The leading mutation in Thai LHON patients is the G11778A missense, followed by T14484C, while G3460A was not detected. The vast majority of patients were young adult males. The G11778A mutation, older age, and male gender are associated with poor vision outcomes. Key messageThe G11778A missense mutation is the most common among Thai LHON patients, followed by T14484C, while G3460A was not found. The G11778A mutation, older age, and male gender are associated with poor vision outcomes.
This retrospective chart review enrolled all Thai LHON patients confirmed by three mitochondrial DNA mutations (G11778A, T14484C, and G3460A) between January 1997 and December 2016. Patients with more than one year of follow-up were included in a visual progression analysis. The Mann-Whitney U-test was applied to compare groups, and prognosis-associated factors were analysed with the generalized estimating equation.
In all, 229 patients were enrolled, with only nineteen females. Most mutations were of the G11778A type (91%), with T14484C accounting for the remainder. The age at onset of G11778A (21.9 years; interquartile range [IQR] 14.9, 33.5) was younger than that of T14484C (33.0 years; IQR 19.4, 37.5). Of 45 patients, the T14484C group demonstrated good vision recovery, whereas the G11778A group did not improve (difference in logMAR -0.7 and IQR -1.5, -0.2 versus logMAR 0.0 and IQR -0.3, 0.2, respectively; P value .001). The G11778A mutation, male, and older age were related to poor prognoses.
The leading mutation in Thai LHON patients is the G11778A missense, followed by T14484C, while G3460A was not detected. The vast majority of patients were young adult males. The G11778A mutation, older age, and male gender are associated with poor vision outcomes. Key messageThe G11778A missense mutation is the most common among Thai LHON patients, followed by T14484C, while G3460A was not found. The G11778A mutation, older age, and male gender are associated with poor vision outcomes.
摘要：
Leber的遗传性视神经病变（LHON），最常见的线粒体视神经病变,导致视力丧失，尤其是年轻人。由于东南亚缺乏流行病学数据，我们旨在确定泰国LHON患者的特征(人口统计数据，突变类型,和预测)作为该地区的第一项研究。
这项回顾性图表回顾纳入了所有经三种线粒体DNA突变证实的泰国LHON患者（G11778A，T14484C,和G3460A）在1997年1月至2016年12月之间。随访超过一年的患者被纳入视觉进展分析。Mann-WhitneyU检验用于比较组，用广义估计方程分析预后相关因素。
总之,共纳入229例患者，只有十九个女人。大多数突变是G11778A类型（91％），剩下的是T14484C。G11778A的发病年龄（21.9岁；四分位距[IQR]14.9，33.5）比T14484C（33.0岁；IQR19.4，37.5）年轻。45名患者中,T14484C组表现出良好的视力恢复，而G11778A组没有改善(logMAR-0.7和IQR-1.5,-0.2与logMAR0.0和IQR-0.3,0.2的差异;P值.001).G11778A突变,男性,年龄较大与预后不良有关。
泰国LHON患者的主要突变是G11778A错义，其次是T14484C，而未检测到G3460A。绝大多数患者是年轻的成年男性。G11778A突变,年龄较大,男性与视力不良相关.关键信息G11778A错义突变是泰国LHON患者中最常见的，其次是T14484C，而未找到G3460A。G11778A突变,年龄较大,男性与视力不良相关.
这项回顾性图表回顾纳入了所有经三种线粒体DNA突变证实的泰国LHON患者（G11778A，T14484C,和G3460A）在1997年1月至2016年12月之间。随访超过一年的患者被纳入视觉进展分析。Mann-WhitneyU检验用于比较组，用广义估计方程分析预后相关因素。
总之,共纳入229例患者，只有十九个女人。大多数突变是G11778A类型（91％），剩下的是T14484C。G11778A的发病年龄（21.9岁；四分位距[IQR]14.9，33.5）比T14484C（33.0岁；IQR19.4，37.5）年轻。45名患者中,T14484C组表现出良好的视力恢复，而G11778A组没有改善(logMAR-0.7和IQR-1.5,-0.2与logMAR0.0和IQR-0.3,0.2的差异;P值.001).G11778A突变,男性,年龄较大与预后不良有关。
泰国LHON患者的主要突变是G11778A错义，其次是T14484C，而未检测到G3460A。绝大多数患者是年轻的成年男性。G11778A突变,年龄较大,男性与视力不良相关.关键信息G11778A错义突变是泰国LHON患者中最常见的，其次是T14484C，而未找到G3460A。G11778A突变,年龄较大,男性与视力不良相关.
