AIM:To estimate the prevalence and molecular epidemiology of Leber hereditary optic neuropathy(LHON)in the south of North China.

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.