方法：对2001-12/2014-12就诊于河北省眼科医院(原邢台市眼科医院)的可疑LHON患者进行mtDNA(mitochondrial DNA)检测，筛选出中国华北南部邢台籍的LHON患者，对这些LHON家系进行详细的随访、家系调查、视力、眼底、色觉、视野等相关临床检查，确诊出这些家系的患病人群，以2010年国家第六次人口普查时邢台地区常住人口为基数，对入组的LHON家系进行统计学分析，粗略地估算出邢台地区Leber遗传性视神经病变的发病率与分子遗传学特点。

结果：2001-12/2014-12期间调查了33个LHON家系的4代母系成员463例，确诊中国华北南部邢台籍Leber遗传性视神经病变患者72例，男65例，女7例。其中T3866C位点突变1例，G11778A位点突变60例，T14484C位点突变8例，G11696A+G11778A位点同时突变2例，G3460A突变1例。以2010年国家第六次人口普查时邢台地区0～64岁常住人口数6 592 466作为基数，计算出中国邢台地区Leber遗传性视神经病变患病率为1.092/10万(95%CI：0.964/10万～1.22/10万)，其中以G11778A位点突变最为常见，G11778A位点的发病率为0.91/10万(95%CI：0.79/10万～1.03/10万)。

结论：Leber遗传性视神经病变在中国邢台地区的发病率较高，其患病率的下限约为1.092/10万，其中ND4为突变热点区域，以G11778A位点突变最为常见，男性患者较女性患者明显多。

METHODS:Patients suspected with LHON who went to Hebei Ophthalmic Hospital(formerly Xingtai Eye Hospital)from December 2001 to December 2014, were conducted mtDNA(mitochondrial DNA)screening. The patients whose origin were Xingtai, the sourth of North China, were screened out. The LHON families were given detailed follow-up, pedigree investigation and examinations of visual acuity, fundus, color vision, visual field and other clinical exam to diagnose the sick ones in the pedigrees. We took the resident population which date was from the sixth national census in 2010 in Xingtai area as the base, then conducted statistically analysis for those pedigrees to roughly estimate the incidence and molecular genetics characteristics of LHON in this area.

RESULTS:From December 2001 to December 2014, the 463 people from four generations in 33 LHON families were investigated, and 72 patients were diagnosed as LHON, 65 males and 7 females. One patient was found with mutation at T3866C,60 at G11778A,8 at T14484C,2 at G11696A+G11778A, and 1 at G3460A. In the sixth national census in 2010, the population aged 0～64 in Xingtai area was 6 592 466, and the prevalence of LHON was 1.092/100 000(95%CI:0.964～1.22/100 000), and the incidence of G11778A, which was the most common one, was 0.91/100 000(95%CI:0.79～1.03/100 000).

CONCLUSION:The incidence of LHON in Xingtai China is high, the lower limit of prevalence is about 1.092/100 000, and the ND4 is the hot spot region. The mutation at G11778A is the most common one. Male patients were significantly more than female patients.