儿童Leber遗传性视神经病变VEP变化特点的临床分析

目的 分析不同病程、不同位点突变的Leber遗传性视神经病变（LHON）患儿视力及视觉诱发电位（VEP）的变化特点,并探讨两者之间的关系。设计回顾性病例系列。研究对象根据临床特点及基因检查确诊且病例资料完整的LHON患儿36例纳入研究,其中27例有完整的视力资料的患者纳入视力结果的分析。方法根据病程分为≤6个月的亚急性期组和>6个月慢性期组;根据致病基因位点分为11778位点突变组和14484位点突变组。分别比较不同发病时间、不同基因突变位点及不同性别间最佳矫正视力（BCVA）、视觉诱发电位（VEP）P100波平均潜伏期和振幅,并分析VEP指标与视力、发病时间的相关性。主要指标病程、BCVA、VEP P100波的潜伏期及振幅。结果36例LHON患儿,其中男性27例,平均年龄（10.75±4.64）岁。不同性别、病程、突变位点的最佳矫正视力均无统计学差异。亚急性期组VEP中P100波平均潜伏期（109.54±29.05）μs低于慢性期组（127.28±6.95）μs（t=-2.93,P=0.007）;两组间P100波振幅无明显差别。14484突变组BCVA、P100波平均潜伏期及振...

Clinical analysis of VEP changes in children with Leber hereditary optic neuropathy

Objective To analyze the changes of visual acuity and visual evoked potential (VEP) in children with Leber hereditary optic neuropathy (LHON) at different disease courses and different mutation sites, and to explore the relationship between them. Design Retrospective analysis. Participants 36 LHON children diagnosed by clinical features and gene assay were included, wherein 27 cases with complete visual acuity records were used for visual acuity related analysis. Methods All cases were divided into two subgroups: subacute(≤6 months) versus chronic (>6 months) subgroups according to diseases courses, 11778 mtDNA mutations versus 14484 mtDNA mutations subgroups, male versus female subgroups. Their differences in best-corrected visual acuity(BCVA), latency and amplitude of P100 detected by VEP were compared. Correlation of VEP indexes with visual acuity and onset time were also analysed. Main Outcome Measures Disease courses, BCVA, latency of P100 and amplitude of P100. Results There were 36 children with LHON, with an average age of (10.75±4.64) years, including 27 males. There were no statistically significant differences in the BCVA between genders, disease courses and mutation sites. The latency of P100 in subacute subgroups (109.54±29.05) μs was evidently shorter compared to that of chronic subgroup (127.28±6.95) μs (t=-2.93, P=0.007). There was no significant difference in amplitude of P100 between the two groups. The 14484 mtDNA mutation subgroup was better than that of 11778 mtDNA mutation subgroup both in latency and amplitude, but the difference was not statistically significant. There was a positive correlation between BCVA and amplitude of P100 (r=0.459, P=0.014). Conclusion The VEP of LHON children mainly displayed decreasing in P100 amplitude at subacute stage and displayed worsening both in latency and amplitude of P100. BCVA was positively correlated with the P100 amplitude. The optic nerve conduction of LHON children caused by 14484 mtDNA mutation was slightly better than that of 11778 mtDNA mutation. (Ophthalmol CHN, 2022, 31: 386-389)