| ObjectiveLeber’s hereditary optic neuropathy(LHON)is a maternally inherited optic neuropathy caused by mitochondrial DNA mutations,and is currently one of the most common blinding diseases of adolescents in the world.The purpose of this paper is to review the overall prognosis of LHON patients who attended our ophthalmology clinic in the past three years,to observe the efficacy of combined Chinese and Western medicine treatment in 130 patients who had been hospitalized for intensive treatment,and to investigate the effectiveness of combined Chinese and Western medicine treatment,and to conduct a family survey and genetic analysis of patients with different mutations at different loci in order to do a preliminary exploration of the epidemiological pattern and ectopic characteristics of the disease in China.A retrospective study was conducted to help early diagnosis and treatment and clinical practice.This thesis consists of two main parts:literature review and clinical study.MethodsLiterature review section:It mainly includes two parts:Review 1:Modern medical understanding and research on LHON and Review 2:Overview of theories related to LHON in Chinese medicine.In Review 1,a general overview of the definition of LHON and its historical background,biochemical and molecular basis,pathophysiological mechanisms,possible influencing factors,epidemiological features and ectopic rate characteristics,clinical manifestations,diagnosis and differential diagnosis,treatment status and outlook were presented.In Review 2,a summary discussion of the origin of the TCM disease name,the TCM etiology and pathogenesis,the theories and doctrines of various TCM schools related to the disease,TCM evidence-based treatment,and preventive care is presented.Clinical research sectionResearch 1:The medical records of patients with LHON through genetic testing who were hospitalized at the Dongfang Hospital of Beijing University of Chinese Medicine from January 2018 to October 2022 for combined Chinese and Western diagnosis and treatment were used as the data source for retrospective analysis,and the patients’ basic information,diagnosis,age of onset,genetic mutation loci,best corrected visual acuity of both eyes at admission and discharge,visual field examination,and whether to use edibenzone after discharge were used as clinical The data were entered into Microsoft excel 2019 software to establish a database,and the effective rate of combined Chinese and Western medicine treatment was calculated.SPSS statistics 20.0 software was used for statistical analysis,and paired t-tests were performed for visual field examination before and after treatment,and chi-square tests were performed for the effective rate of visual acuity at the three primary sites,and ANOVA was performed for the degree of visual field recovery to explore whether the efficacy differences existed.Patients who were discharged from the hospital with or without the use of Idebenone were divided into two groups,and statistical analysis was performed using SPSS statistics 20.0 software to investigate whether there was a difference in the prognosis of the two groups.Patients and family members who agreed to cooperate with the genealogical survey were selected for the questioning of genealogical conditions,such as the index case and the onset of disease.The family lines were numbered in the order of follow-up using Microsoft excel 2019 software,and the three generations of maternal members of each family line were plotted using Orgcharting 1.4 software,and descriptive statistical analysis was performed to calculate the epiphenomenon rate of each family line by the number of members,sex ratio,mutation sites,prevalence of prevalent patients and other members.Research 2:The basic information,diagnosis and prescription medication of the patients included in Research 1 were established as a database,re-summarized,and descriptive statistical analysis was performed on the frequency and frequency of drug efficacy and sexual taste and ascription using Microsoft excel 2019 software to derive high-frequency Chinese medicines;systematic cluster analysis was performed on high-frequency Chinese medicines using SPSS statistics 20.0 software;The Apriori procedure in IBM SPSS Modeler 18.0 software was used for association analysis,setting support≥30%and confidence ≥ 95%,and network diagrams were drawn to explore the combinations of common prescriptions used by Professor Wei QiPing for the treatment of LHON.ResultsResearch 1:A total of 130 patients with 260 eyes were included in the study,including 80 mutations at locus 11778.30 mutations at locus 14484,11 mutations at locus 3460,8 mutations at locus 14502,2 mutations at locus 4136,1 mutation at locus 17696,1 mutation at locus 12906,1 mutation at locus 11253.2 mutations at locus 128116,and 1 mutation at locus 9738,1 mutation at locus 11696,1 mutation at locus 3497,and 1 mutation at locus 3736.9738 mutation site 1 case.11696 mutation site 1 case,3497 mutation site 1 case.3736 mutation site 1 case.The total number of eyes with improved visual acuity after hospitalization was 113.144 eyes with ineffective visual acuity,and 3 eyes with decreased visual acuity,with a total effective rate of 43.46%.The number of blind eyes admitted was 121,the number of blind eyes discharged was 86,the number of eyes admitted with low vision was 121,the number of eyes discharged with low vision was 107,the rate of detachment from blindness was 28.93%and the rate of detachment from low vision was 11.57%.Paired t-test results showed statistically significant differences in the visual field examination results before and after treatment(p=0.000<0.01).The results of ANOVA exploring the changes in visual fields before and after treatment at the three primary mutation sites showed significant differences between 11778 and 14484(MD:p=0.000<0.01,MS:p=0.000<0.01)and 11778 and 3460(MD:p=0.009<0.01,MS:p=0.005<0.01).14484 was not significantly different from 3460(MD:p=0.699>0.05,MS:p=0.878>0.05).The results of the chi-square analysis exploring the efficiency of visual recovery at the three primary mutation sites showed no statistically significant difference(X2=0.952,p=0.621>0.05),the results of the rate of detachment from blindness at the three primary mutation sites showed statistically significant difference(X2=23.447,p=0.000<0.05),the results of the rate of detachment from low vision at the three primary mutation sites showed no statistically significant difference(X2=3.254,p=0.196>0.05).The results of the chi-square analysis exploring the follow-up visual prognosis with or without the use of Idebenone showed no statistically significant difference between the two groups(X2=0.516,p=0.473>0.05),the results of the rate of detachment from blindness in Idebenone group and non-Idebenone group showed statistically significant difference(X2=4.212,p=0.040<0.05),the results of the rate of detachment from low vision in Idebenone group and non-Idebenone group showed no statistically significant difference(X2=1.844,p=0.201>0.05).32 LHON family lines with a total of 429 members in three generations,including 362 maternal members,214 male members and 148 female members,developed visual dysfunction in 61 patients,40 male patients and 21 female patients.Of the 61 patients with visual dysfunction,40 were male and 21 were female,and the total mutation epistasis rate was 20.38%in all family lines.The average age of onset was 15.3 years for patients at locus 11778,17.5 years for patients at locus 14484,and 14.3 years for patients at locus 3460 among the three major primary locus mutation types.The minimum age of onset was 6 years and the maximum age was 30 years for the index cases.Research 2:A total of 130 valid cases and prescriptions were obtained,involving 92 flavors of Chinese herbs.The four qi had the most cold herbs(25.00%),the five flavors had the most sweet herbs(38.36%),and the meridians had the most lung meridians(16.67%)and liver meridians(16.24%).The frequency of use>30 times,i.e.high-frequency herbs,was 15 flavors.The top 5 were Chrysanthemum(86.15%),Atractylodes macrocephala(85.38%),Fructus Lycii(84.62%),Poria(84.62%),and Radix Bupleurum(83.85%).High-frequency herbal clustering analysis:a total of 4 groups of core prescriptions were obtained:Chai Hu,Bai Shao,Chrysanthemum,Radix Codonopsis,and roasted licorice;Fructus Lycii,Chu Shi Zi,Fructus Ligustrum,Mu Xiang,and Semen Cassia;Astragalus,Chen Pi,Chuanxiong,Safflower,Radix Angelicae Sinensis,and Citrus Aurantium;Fang Feng,Radix et Rhizoma,Atractylodes Macrocephalae,and Poria.ConclusionThe combined treatment of LHON with Chinese and Western medicine has certain clinical efficacy on the recovery of visual acuity and improvement of visual field,and there are differences in the efficacy of the three primary mutation sites,among which site 14484 has better visual field recovery and higher rate of detachment from blindness,while site 11778 is relatively poor.There was no statistically significant difference in the prognosis for vision and the rate of detachment from low vision in LHON treated with Idebenone,but there is some positive correlation in the rate of detachment from blindness.Professor Wei QiPing’s prescription for LHON is characterized mainly by heavy tonicity and fluency,supporting the righteousness to dispel the evil,focusing on regulating the liver spleen organ,appropriate tonicity,and adding and subtracting with the evidence. |
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