Abstract: 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)

Key words: Leber hereditary optic neuropathy, visual evoked potential, mitochondrial DNA, children