简介:AIM:Tostudyclinicalfeaturesandgenemutationswithinthepaired-likehomeodomaintranscriptionfactor2(PITX2)geneinapedigreeofbilaterallimbaldermoids.METHODS:Completeeyeexaminationshavebeenperformedoneachindividualofthefamily.Exonsofpaired-likehomeodomaintranscriptionfactor2(PITX2)wereamplifiedbypolymerasechainreaction,sequenced,andcomparedwithareferencedatabase.RESULTS:Wedescribedthephenotype,clinicfindingsinafamilywithtwoaffectedmembers.Themassesoftheproband’seyeswereexcisedsurgicallydemonstratingadermoidcystbyhistopathologicalexamination.NomutationwasdetectedinthegenePITX2inthispedigree.CONCLUSION:Afamilyoflimbaldermoidcystwasreported.Inaddition,nopathogenicsequencevariationswerefoundinPITX2,indicatingthatthisphenotypeinthisfamilyisadistinctiveentity.
简介:·Glaucomaisoneoftheleadingcausesofvisualimpairmentandblindnessworldwide.Ofknownriskfactorsforglaucoma,anincreasedinintraocularpressureismosthighlycorrelatedwithglaucomatousdamage.Irrespectiveofthecause,apoptosisoftheretinalganglioncellsistheeventualoutcome.Itiswidelyacceptedthatglaucomaisaneurodegenerativediseasethatisstronglycorrelatedwithcentralnervoussystemdisorders,suchasAlzheimer’sdisease.Thesetwodisordersalsosharesomesimilaritiesinpathogenicmechanisms.Recentstudiessuggestthatthetransientreceptorpotentialcanonical6channelcouldworktogetherwithbrain-derivedneurotrophicfactortopromoteneuronsurvivalinbrainandretina.Inthisstudy,weproposethattransientreceptorpotentialcanonical6maycontributetothepathogenesisofhumanglaucomaandbecomeapotentialtherapeutictarget.
简介:AIM:ToidentifythegeneticdefectinaChinesefamilywithbilateralprogressivechildhoodposteriorcataract.METHODS:Atwo-generationfamilywasrecruitedinthisstudy.Familyhistoryandclinicaldatawererecorded.AllreportedcandidategenesassociatedwithcongenitalposteriorcataractwerescreenedbydirectDNAsequencing.·RESULTS:Allaffectedindividualspresentedposterioropacitiesinthelens.Directsequencingofthecandidategenesshowedaheterozygousc.2668C>TvariationinEPHA2gene,whichresultedinthereplacementofargininebycysteineatcodon890(p.R890C).Thismutationwasfoundintwoaffectedindividuals,butwasnotobservedin200normalcontrols.·CONCLUSION:Wereportanovelmutation(p.R890C)intheEPHA2receptortyrosinekinasegene.ThefindingexpandsthemutationspectrumofEPHA2inassociationwithposteriorcataract.
简介:目的通过快速评估可避免盲系统评估四川省冕宁县50岁以上人群视力障碍的患病率和致残原因。方法在2011年6月至8月使用RAAB系统对四川省冕宁县50岁以上居民采用分层、整群随机抽样方法抽取2850人,根据人口比例,分为57个人群组,每个人群组人数为50人,每个人群组采用紧凑段抽样(compactsegmentsampling,CSS),当紧凑段抽样不可行时,采用配额抽样。使用简易视力卡检测视力,用便携式裂隙灯和直接检眼镜检查晶状体及眼底情况以明确导致视力残疾的原因。结果在冕宁县抽样调查的2850人中,2817人接受了检查(98.8%),参照1973年世界卫生组织(WorldHealthOrganization,WHO)视力损伤标准,共有视力残疾者537人,患病率为19.1%,其中盲111人,盲的患病率为3.9%(95%可信区间:3.2%-4.7%),严重视力损伤69人,其患病率2.4%(95%可信区间:1.8%-3.1%);视力损伤357人,其患病率12.7%(95%可信区间:10.5%-14.9%),其中可避免盲占87.4%。结论1.冕宁县50岁及以上人群盲的患病率为3.9%,严重视力损伤的患病率2.4%;视力损伤的患病率12.7%,其中可避免盲占87.4%。未经治疗的白内障仍然是该县最主要的致残原因。2.RAAB系统作为一种在人群中快速筛查可避免盲的调查方法,准确性好,简单实用、高效,重复性强。
简介:目的:探讨白内障合并晶状体脱位范围〉2个象限的患者,Ⅰ期行白内障囊内摘除术+前部玻璃体切割术,术后3mo矫正视力〉0.3者,Ⅱ期行小切口两点固定人工晶状体悬吊术的临床疗效。方法:对2014-07/2016-12我院白内障科就诊的34例34眼白内障合并晶状体脱位范围〉2个象限的患者,Ⅰ期行白内障囊内摘除术+前部玻璃体切割术,3mo后矫正视力〉0.3者,Ⅱ期行小切口两点固定人工晶状体悬吊术,分别观察患者术后1wk,1、3mo裸眼视力、最佳矫正视力、眼压、角膜散光度、术后并发症情况。结果:随着术后恢复时间的延长,患者各期的裸眼视力和最佳矫正视力均较术前有明显提高。术后3mo最佳矫正视力0.1~〈0.3者1眼,0.3~〈0.5者8眼,0.5~〈0.7者16眼,〉0.7者9眼,达到或接近术前的最佳矫正视力。术后1wk,1、3mo眼压处于正常范围内。手术并没有明显增加角膜的散光度。结论:对于白内障合并晶状体脱位范围〉2个象限的患者,Ⅰ期行白内障囊内摘除术+前部玻璃体切割术,3mo后矫正视力〉0.3者,Ⅱ期行小切口两点固定人工晶状体悬吊术能有效确切地提高视力,稳定眼压,术后并发症少,是较为安全可靠的治疗方式。
简介:目的参照眼球解剖参数,观察4种术式治疗APACG急性发作后的临床效果,研究其手术方式的选择,减少并发症的发生。方法回顾性病例研究。选择2011年5月至2015年5月在我科治疗的APACG急性发作期的患者,48例53眼。根据我国原发性青光眼诊断和治疗专家共识和眼球参数(晶状体厚度、眼轴长度、前房深度等)作为手术方式的选择条件分别作复合式小梁切除术、青白联合手术、单纯白内障手术、激光虹膜周切术,观察术后眼压(非接触性)、BCVA、房角改变、前房深度、滤过泡形态、并发症等。结果术后眼压较术前均明显下降,青白联合手术后眼压水平低于其他术式。视力较术前均有提高,单纯白内障手术提高最明显。前房深度较术前均有不同程度的加深,青白联合手术和单纯白内障手术加深显著。术后并发症无明显差异。复合式小梁切除术和青白联合手术术后滤过泡差异无统计学意义。结论对于具有短眼轴、晶状体相对比较厚的APACG患者,白内障手术指针可适当扩大,倡议行复合式小梁切除术时联合行晶状体摘除术,术后眼压控制更好,同时提高视力,短期内避免二次手术。
简介:AIM:Toevaluatetheefficacyandsafetyofcornealcollagencrosslinking(CXL)topreventtheprogressionofpost-laserinsitukeratomileusis(LASIK)cornealectasia.·METHODS:Inaprospective,nonrandomized,single-centrestudy,CXLwasperformedin20eyesof11patientswhohadLASIKformyopicastigmatismandsubsequentlydevelopedkeratectasia.Theprocedureincludedinstillationof0.1%riboflavin-20%dextranesolution30minutesbeforeUVAirradiationandevery5minutesforanadditional30minutesduringirradiation.Theeyeswereevaluatedpreoperativelyandat1-,3-,6-,and12-monthintervals.Thecompleteophthalmologicexaminationcompriseduncorrectedvisualacuity,bestspectacle-correctedvisualacuity,endothelialcellcount,ultrasoundpachymetry,cornealtopography,andinvivoconfocalmicroscopy.·RESULTS:CXLappearedtostabiliseorpartiallyreversetheprogressionofpost-LASIKcornealectasiawithoutapparentcomplicationinourcohort.UCVAandBCVAimprovementswerestatisticallysignificant(P<0.05)beyond12monthsaftersurgery(improvementof0.07and0.13logMARat1year,respectively).Meanbaselineflattestmeridiankeratometryandmeansteepestmeridiankeratometryreduction(improvementof2.00and1.50diopters(D),respectively)werestatisticallysignificant(P<0.05)at12monthspostoperatively.At1yearafterCXL,meanendothelialcellcountdidnotdeteriorate.Meanthinnestcorneapachymetryincreasedsignificantly.·CONCLUSION:Theresultsofthestudyshowedalong-termstabilityofpost-LASIKcornealectasiaaftercrosslinkingwithoutrelevantsideeffects.Itseemstobeasafeandpromisingproceduretostoptheprogressionofpost-LASIKkeratectasia,therebyavoidingordelayingkeratoplasty.
简介:<正>DearSir,IamDr.Sheng-LiMi,fromtheBiomanufacturingengineeringlaboratory,GraduateSchoolatShenzhen,TsinghuaUniversity,Shenzhen,China.Iwritetopresentacasereportofnocardiabrasiliensisinapatientwithdiabetes.Nocardiaispartofagroupofaerobicactinomycetes,widelydistributedinsoil.Nocardiaasteroidsandnocardiabrasiliensisarethemostcommonhumanpathogens.Humansinfectedbynocardiaasteroidsthroughtherespiratorytractmainlysufferfromprimarysuppurativepulmonaryconditions.Infectionofnocardiabrasiliensisoftenoccursintheadvancedstagesofaprogressivediseaseorimmunedisorder,especiallyCushingsyndrome,diabetes,orinpatientsusingcorticosteroids,immunosuppressiveagentsandbroad-spectrumantibioticsforlongtime[1].Toourknowledge,thereportsofnocardiakeratitiswasveryrare
简介:AIM:Toexaminetheexpressionofsurvivinandvascularendothelialgrowthfactor(VEGF)duringthedevelopmentofretinalneovascularization(NV)inamousemodel.·METHODS:Awell-characterizedmurinemodelofretinalNVwasusedtostudytheexpressionofsurvivinandVEGF.NVoftheretinawasinducedinmicebyexposureto75%O2frompostnataldayP7toP12,followedbyreturntoroomairfromP12toP17.ExpressionofsurvivinandVEGFproteinwasanalyzedbyImmunohistochemistry.Inaddition,mousemodelofproliferativeretinopathywasanalyzedbyretinalfluoresceinangiographyandquantificationanalysis.·RESULTS:Thenormalmicehadbothsuperfiekalanddeepvascularlayersthatextendedfromtheopticnervetotheperiphery.Inintraocularpressure(IOP)micewerecharacterizedbyrepresentatypicalpatternofpathologicalretinalNV.Therearelessorlittlenucleiofnewvesselsvascularendothelialcellbreakingthroughtheinnerretinalthaninretinopathyofprematurity(ROP)mice,largeclustersofbloodvesselswereadherenttotheinternallimitingmembrane(ILM)(0.27±0.20vs23.38±1.027,t=9.454,P<0.001).DuringtheangiogenicperiodfromP13toP17,survivinandVEGFproteinexpressionincreasedinexperimentalretinascomparedwithcontrolsamples(2.56±0.46vs3.34±0.40,t=17.43,P<0.01:2.18±0.75vs4.34±0.25,t=19.61,P<0.01).ProteinlevelsofVEGFandsurvivnhassignificantlypositivecorrelation(P<0.05,r=0.411).·CONCLUSION:CorrelationwasmadeattheproteinlevelsofsurvivinexpressioncomparedwiththatofVEGFinamurinemodelofretinalNV,whichsuggestsatemporalroleforsurvivinandVEGFinnewvesselformationinresponsetohypoxicstimulation.
简介:AIM:Toestablishanuntransfectedhumancornealstromal(HCS)celllineandcharacterizeitsbiocompatibilitytoacellularporcinecornealstroma(aPCS).·METHODS:PrimaryculturewasinitiatedwithapurepopulationofHCScellsinDMEM/F12media(pH7.2)containing20%fetalbovineserumandvariousnecessarygrowthfactors.Theestablishedcelllinewascharacterizedbygrowthproperty,chromosomeanalysis,tumorigenicityassay,expressionofmarkerproteinsandfunctionalproteins.Furthermore,thebiocompatibilityofHCScellswithaPCSwasexaminedthroughhistologicalandimmunocytochemistryanalysesandwithlight,electronmicroscopies.·RESULTS:HCScellsproliferatedtoconfluence2weekslaterinprimarycultureandhavebeensubculturedtopassage140sofar.AcontinuousuntransfectedHCScelllinewithapopulationdoublingtimeof41.44hoursatpassage80hasbeendetermined.Resultsofchromosomeanalysis,morphology,combinedwiththeresultsofexpressionofmarkerproteinandfunctionalproteinssuggestedthatthecellsretainedHCScellproperties.Furthermore,HCScellshavenotumorigenicity,andwithexcellentbiocompatibilitytoaPCS.·CONCLUSION:Anuntransfectedandnon-tumorigenicHCScelllinehasbeenestablished,andthecellsmaintainedpositiveexpressionofmarkerproteinsandfunctionalproteins.Thecellline,withexcellentbiocompatibilitytoaPCS,mightbeusedforinvitroreconstructionoftissue-engineeredHCS.
简介:AIM:Toinvestigatethespecialtyoftranscranialsurgerythroughpterionalapproachforremovalofcranio-orbitaltumors,introducetheophthalmologicalexperiencesofenteringtheorbittoreducetheincidencerateofassociatedcomplicationsofthisoperation.·METHODS:Weperformedaretrospectiveanalysisofaseriesof37casesinvolvingpatientswhounderwenttranscranialsurgerythroughpterionalapproachfortreatmentofcranio-orbitaltumorsinourdepartmentinthepast8years.Pterionapproachcraniotomywasperformedtoallpatients.Afterremovingtumorsintheskullbytheneurosurgeon,ophthalmologistremovedtumorsinorbit.Wetookmeasuresbelowtodecreasecomplications,includinggroundingopticcanalthroughanabrasivedrillingwhennecessary,hangingvariousextraocularmusclestobeexposedforprotection,refrigeratingbyrefrigerationheadstoremovetumors,atlastsewinguporbitseptumaftersurgery.·RESULTS:Tumorswereremovedcompletelyin32cases,andincompletein5casesduetoextensiveinvasionintothecavernoussinusorsphenoidsinus.Ofallthecases,benigntumorsweredemonstratedin28cases(75.6%,28/37)andmalignantin9(24.3%,9/37).Themostcommonlesiontypewasmeningiomain11cases(29.7%,11/37).Extraocularmuscles(EOM)impairment,occurringin21cases(56.7%,21/37),wasthemostfrequentpostoperativecomplication.Themostseriousconsequencewasvisionlossoccurredin4cases(10.8%,4/37).Othercomplications,suchas11casesoftransientblepharoptosis29.7%(11/37),5casesofmydriasisin13.5%(5/7);2casesofcerebrospinalrhinorrheain5.4%(2/37).·CONCLUSION:Cranio-orbitaltumorscanberemovedcompletelyusingtranscranialapproach,andthepterionalapproachoffersexcellentexposure.Cooperationofinterdisciplinaryteamofneurosurgeonsandophthalmologistsconducestofulluseofrespectiveprofessionaladvantages.Theexperienceofophthalmicoperationtechnologycandecreaseoccurrenceofocularcomplicationsaftersurger
简介:AIM:Todemonstratethemorphologyandstructureofinvitroreconstructedtissue-engineeredhumancornealepithelium(TE-HCEP)withseedercellsfromanuntransfectedHCEPcellline.·METHODS:TheTE-HCEPswerereconstructedinvitrowithseedercellsfromanuntransfectedHCEPcellline,andscaffoldcarriersofdenudedamnioticmembrane(dAM)inair-liquidinterfaceculturefor3,5,7and9days,respectively.Thespecimenswereexaminedwithhematoxylin-eosin(HE)stainingofparaffin-section,immunocytochemicalstaining,scanningandtransmissionelectronmicroscopy.·RESULTS:DuringinvitroreconstructionofTE-HCEP,HCEPcellsformeda3-4,6-7and8-10layersofanHCEP-likestructureondAMsinair-liquidinterfaceculturefor3,5and7days,respectively.Butthecellsdeceasedto5-6layersandthestructureofstraifiedepitheliumbecamelooseatday9.Andthecellsmaintainedpositiveexpressionofmarkerproteins(keratin3andkeratin12),cell-junctionproteins(zonulaoccludens-1,E-cadherin,connexin43andintegrinβ1)andmembranetransportproteinofNa+-K+ATPase.TheHCEPcellsinTE-HCEPwererichinmicrovillionapicalsurfaceandestablishednumerouscell-cellandcell-dAMjunctionsatday5.·CONCLUSION:ThemorphologyandstructureofthereconstructedTE-HCEPweresimilartothoseofHCEPinvivo.TheHCEPcellsinthereconstructedTE-HCEPmaintainedthepropertiesofHCEPcells,includingabilitiesofformingintercellularandcell-extracellularmatrixjunctionsandabilitiesofperformingmembranetransportation.TheuntransfectedHCEPcellsanddAMscouldpromisinglybeusedinreconstructionHCEPequivalentforclinicalcornealepitheliumtransplantation.
简介:亚洲神经眼科协会(ASNOS)于2002年在日本东京成立。由亚洲神经眼科协会每两年主办一次的亚洲神经眼科大会是一个大型国际神经眼科会议,代表了亚洲神经眼科基础研究及临床研究的最高水平。历届会议都有数百名各国神经眼科专业人士进行学术交流,对国际最近神经眼科新技术及学术前沿进行介绍及讨论。亚洲神经眼科大会提供了一个国际化平台,让世界各地的参会者对前沿的神经眼科研究课题交流想法,探讨最新进展及促进未来的合作。在亚洲神经眼科大会中一个尤其出名且重要的病例讨论版块“WalshinAsia”,选取各国出色的带病理结果的病例进行深入剖析,非常具有挑战性。
简介:·AIM:Toexploretheeffectofimmunizationwithcopolymer-1(COP-1)andretinalstemcells(RSCs)transplantationoninterferon-gamma(IFN-γ)levelsinaratexperimentalglaucomamodel.·METHODS:Anexperimentalglaucomawasinducedbyargonlaserphotocoagulationoftheepiscleralveinsandlimbalplexusintherighteyeofrats.Immediatelyfollowingglaucomainduction,ratswereimmunizedwithCOP-1.RSCswereculturedandtransplantedintravitreallyintotheeyesofglaucomamodelanimals1weekpost-lasertreatment.Sixexperimentalgroupswereused:COP-1/RSC,PBS/RSC,COP-1/PBS,PBS/PBS,glaucomamodelgroup,andanormalcontrolgroup.TheconcentrationofIFN-γinaqueoushumor(AH)andserumwasmeasuredbyenzyme-linkedimmunosorbentassay(ELISA)ineachofthesixgroups.Retinalganglioncell(RGC)survivalwasassessedbyquantifyingapoptosisusingHoechststaining.·RESULTS:ConcentrationsofIFN-γinAHandserumofratsthathadundergoneglaucomainductionwerehigherthanthoseofnon-inducedcontrolrats.TheconcentrationsofIFN-γinAHandserumoftheCOP-1/RSCstreatedgroupweredeterminedtobe2371.9ng/Land710.9ng/L,respectively,whichweresignificantlylowerthanthoseintheothertreatedgroups(P<0.05).Infact,IFN-γlevelsinthedualtreatedgroupwerereducedtobackgroundlevels.TheCOP-1/RSCgrouphadlowernumberofapoptoticRGCsthantheotherthreeexperimentalgroups(P<0.05).·CONCLUSION:ThereducedlevelsofIFN-γinAHandserumoftheCOP-1/RSCgroupmayberelatedtosynergisticeffectsbetweenRSCstransplantationandCOP-1immunemodulation.ItislikelythatthelowerlevelsofIFN-γpreventedRGCsglaucomatousapoptosis.·