Photoreceptor changes in Leber hereditary optic neuropathy with m.G11778A mutation  

作　　者：Qing-Mei Miao Yu-Fang Cheng Hong-Mei Zheng Jia-Jia Yuan Chang-Zheng Chen 

机构地区：[1]Eye Center,Renmin Hospital of Wuhan University,Wuhan 430060,Hubei Province,China

出　　处：《International Journal of Ophthalmology(English edition)》2023年第6期928-932,共5页国际眼科杂志（英文版）

基　　金：Supported by the National Natural Science Foundation of China (No.82101115);Wuhan University Independent Innovation Fund Youth Project (No.2042021kf0094)。

摘　　要：·AIM:To evaluate the functional and structural changes of photoreceptors in patients and asymptomatic carriers with Leber hereditary optic neuropathy(LHON)using fullfield electroretinography(FERG)and optical coherence tomography(OCT).·METHODS:Individuals diagnosed with LHON at the Renmin Hospital of Wuhan University and their family members were included in this cross-sectional observational study.The FERG a-wave amplitude of affected patients and asymptomatic carriers was analyzed.The thickness of the outer nuclear layer(ONL),inner and outer segment(IS/OS)and total photoreceptors in the macular fovea and parafovea were measured.·RESULTS:This study included 14 LHON patients(mean age:20.00±9.37y),12 asymptomatic carriers(mean age:39.83±6.48y),and 14 normal subjects(mean age:24.20±1.52y).The FERG results showed that the darkadapted 3.0 electroretinography and light-adapted 3.0 electroretinography a-wave amplitudes of patients and carriers were significantly decreased(P<0.001).The ONL and photoreceptors layers were slightly thicker in patients than in normal subjects(P<0.05),whereas they were thinner in carriers(P<0.05).There were no differences in IS/OS thickness among the groups(P>0.05).·CONCLUSION:Photoreceptors function is significantly impaired in LHON-affected patients and asymptomatic carriers.Meanwhile,photoreceptors morphology is slightly altered,mainly manifesting as a change in ONL thickness.

关 键 词：Leber hereditary optic neuropathy asymptomatic carriers PHOTORECEPTOR ELECTRORETINOGRAM mitochondrial dysfunction 

分 类 号：R774.6[医药卫生—眼科]