AIM:To study the mtDNA mutation in patients with suspected Leber's hereditary optic neuropathy(LHON)regularity and clinical manifestations.

METHODS: Totally 175 patients admitted from January 2006 to January 2012, according to whether had a family history or not, were divided into control group and observation group. Control group oral took vitamin B1 tablets, mecobalamin tablets; observation group oral took vitamin B1 tablets, mecobalamin tablets and combined with methylprednisolone injection. Both groups were draw veinal blood. mtDNA 11778, 3460, 14484 and other mutation hot spot were tested. The age, rate of mutation, mutation, and logMAR best-corrected visual acuity were analyzed.

RESULTS: Observation group: male 78 cases, female 34 cases, maximum age of 42 years, minimum of 8 years, and average was 23±4.5 years. The mtDNA mutation negative was in 59 cases, mtDNA mutations were in 53 cases, G11778A in 41 cases, T14484C in 5 cases, G3460A in 2 cases, G15927A in 1 case, A15951G in 1 case, G11696A in 1 case, G11778A+G11696A in 1 case, G11778A+G3316A in 1 case. The mtDNA mutation negative average best-corrected visual acuity was 1.11±0.31logMAR. Control group: male 46 cases, female 17 cases, the maximum age of 44 years,minimum of 7 years, average were 18±6.5, G11778 mutation in 53(84.1%), T14484C mutation in 8(12.7%), G3460A mutation in 2(3.2%), the average visual acuity was 1.13±0.32 logMAR.

CONCLUSION: In patients with suspected LHON, age at onset of LHON patients was relatively large. The result showed mtDNA G11778A accounted for the majority of mutations, presence of multiple mtDNA mutation and other mtDNA mutation; it is not sensitive to glucocorticoid treatment, and best corrected visual acuity was 1.1 logMAR.