PMID- 37127073
OWN - NLM
STAT- MEDLINE
DCOM- 20230522
LR  - 20230523
IS  - 1872-8278 (Electronic)
IS  - 1567-7249 (Linking)
VI  - 70
DP  - 2023 May
TI  - PhNR and peripapillary RNFL changes in Leber hereditary optic neuropathy with 
      m.G11778A mutation.
PG  - 111-117
LID - S1567-7249(23)00034-X [pii]
LID - 10.1016/j.mito.2023.04.002 [doi]
AB  - PURPOSE: To analyze the functional and structural changes in retinal ganglion 
      cells (RGCs) and their axons that occur during Leber's hereditary optic 
      neuropathy (LHON) using photopic negative response (PhNR) and spectral domain 
      optical coherence tomography (SD-OCT). METHODS: Individuals diagnosed with LHON 
      and their family members were invited to participate in this cross-sectional 
      study. PhNR and OCT were used. The PhNR amplitude and peripapillary retinal nerve 
      fiber layer (pRNFL) thicknesses were compared among the three groups. In 
      addition, affected individuals were divided into subacute, dynamic and chronic 
      phases based on disease duration in order to evaluate the decay in RGCs function 
      and structure. RESULTS: 73 affected and 30 carriers with a m.11778G > A mutation 
      were included. PhNR amplitude and the thickness of pRNFL significantly decreased 
      in affected individuals and carriers compared to that of the controls (P＜0.001). 
      However, there was no difference between the carriers and the controls (P＞0.05). 
      There was no difference in the PhNR amplitude of different phases (P = 0.464). In 
      the subacute phase, only temporal pRNFL thickness decreased significantly 
      (P＜0.001). PRNFL thickness decreased significantly in dynamic phase (P＜0.001). 
      Temporal pRNFL thickness continued to decrease in the chronic phase (P = 0.042). 
      CONCLUSION: In the subacute phase, the function of RGCs was severely impaired. 
      Thickness of pRNFL decreased significantly in four quadrants during disease 
      progression. In the chronic phase, pRNFL thickness decreased slightly. Carriers 
      have shown RGCs dysfunction before pathological changes occur, suggesting 
      subclinical abnormalities.
CI  - Copyright (c) 2023 The Author(s). Published by Elsevier B.V. All rights reserved.
FAU - Miao, Qingmei
AU  - Miao Q
AD  - Eye Center, Renmin Hospital of Wuhan University, Wuhan 430060, China.
FAU - Cheng, Yufang
AU  - Cheng Y
AD  - Eye Center, Renmin Hospital of Wuhan University, Wuhan 430060, China.
FAU - Zheng, Hongmei
AU  - Zheng H
AD  - Eye Center, Renmin Hospital of Wuhan University, Wuhan 430060, China.
FAU - Yuan, Jiajia
AU  - Yuan J
AD  - Eye Center, Renmin Hospital of Wuhan University, Wuhan 430060, China. Electronic 
      address: yuanjj911@163.com.
FAU - Chen, Changzheng
AU  - Chen C
AD  - Eye Center, Renmin Hospital of Wuhan University, Wuhan 430060, China. Electronic 
      address: whuchenchzh@163.com.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20230429
PL  - Netherlands
TA  - Mitochondrion
JT  - Mitochondrion
JID - 100968751
SB  - IM
MH  - Humans
MH  - *Optic Atrophy, Hereditary, Leber/genetics/pathology
MH  - Cross-Sectional Studies
MH  - Nerve Fibers/pathology
MH  - Retina
MH  - Mutation
OTO - NOTNLM
OT  - Asymptomatic carriers
OT  - Leber's hereditary optic neuropathy
OT  - Photopic negative response
OT  - RGCs
OT  - RNFL
COIS- Declaration of Competing Interest The authors declare that they have no known 
      competing financial interests or personal relationships that could have appeared 
      to influence the work reported in this paper.
EDAT- 2023/05/02 00:42
MHDA- 2023/05/22 06:42
CRDT- 2023/05/01 19:21
PHST- 2022/11/02 00:00 [received]
PHST- 2023/02/08 00:00 [revised]
PHST- 2023/04/23 00:00 [accepted]
PHST- 2023/05/22 06:42 [medline]
PHST- 2023/05/02 00:42 [pubmed]
PHST- 2023/05/01 19:21 [entrez]
AID - S1567-7249(23)00034-X [pii]
AID - 10.1016/j.mito.2023.04.002 [doi]
PST - ppublish
SO  - Mitochondrion. 2023 May;70:111-117. doi: 10.1016/j.mito.2023.04.002. Epub 2023 
      Apr 29.