The relationship of visual prognosis and G11778A point mutation in Leber hereditary optic neuropathy / 中华实验眼科杂志

ABSTRACT

Background Leber hereditary optic neuropathy (LHON) is a disease characterized by maternal inheritance.A number of mitochondrial DNA (mtDNA) mutation has been thought to be associated with this disease.Objective This study was to investigate the clinical and molecular genetic properties of LHON in two Chinese families.Methods Forty subjects from two Chinese families with LHON were enrolled in Affiliated First Hospital of Zhengzhou University,including 28 maternal members (10 of these members are LHON and 12 controls from two families.All the participants had a complete ophthalmic examination including visual acuity,direct ophthalmoscopy,color sensation and visual evoked potentials.MtDNA was extract from the whole blood sample of all participants.PCR-DNA sequencing was performed to detect the point mutation of the G11778A,T14484C,and G3462A for each subject.Written informed consent was obtained from each subject prior to this study.Results Only G11778A point mutation was identified in all 28 maternal members from the two families.No point mutation of G11778A was identified in non-maternal members,and no point mutation of the T14484C and G3462A were found in the two families.Conclusions The inherited pattern of these two families shows typical clinical and genetic features of LHON.LHON patients with G1 1778A mutation have a poor prognosis of visual acuity.