简介：AIM:ToInvestigatethegeneticfindingsandphenotypiccharacteristicsofaChinesefamilywithNorriedisease（ND）.METHODS:MoleculargeneticanalysisandclinicalexaminationswereperformedonaChinesefamilywithND.MutationsintheNorriediseasepseudoglioma（NDP）geneweredetectedbydirectsequencing.Haplotypeswereconstructedandcomparedwiththephenotypesinthefamily.Evolutionarycomparisonsandmutantopenreadingframe（ORF）predictionwerealsoundertaken.RESULTS:TwofamilymemberswithocularmanifestationswerediagnosedwithND.Nosignsofsensorineuralhearinglosswereobservedineitherpatient,whileoneofthemshowedsignsofmildmentalretardation.AnovelheterozygousmutationintheNDPgene,c.-12delAAT,wasdetectedinbothpatients.ThemutationandthemutationbearinghapiotypecosegregatedwiththeNDphenotypeinmalesandwastransmittedfromtheirmothersand/orgrandmothers（Ⅱ:2）.ThemalewithoutNDdidnotharborthemutation.Themutationoccurredatthehighlyconservednucleotides.DRFfinderpredictedthatthemutationwouldleadtotheproductionofatruncatedproteinthatlacksthefirst11N-terminalaminoacids.CONCLUSION:Anovelmutation,c.-12delAATintheNDPgene,wasidentifiedinaChinesefamilywithND.ThismutationcausedNDwithoutobvioussensorineuralhearingloss.Mentaldisorderwasfoundinonebutnottheotherpatients.Theclinicalheterogeneityinthefamilyindicatedthatothergeneticvariantsandepigeneticfactorsmayalsoplayaroleinthediseasepresentation.

简介：AIM:ToidentifythefunctionofST2andexploretheroleofIL-33/ST2signalinginregulatingthepro-allergiccytokineproductioninhumancornealepithelialcells(HCECs).METHODS:HumancornealtissuesandculturedprimaryHCECsweretreatedwithIL-33indifferentconcentrationswithoutorwithdifferentinhibitorstoevaluatetheexpression,locationandsignalingpathwaysofST2inregulatingproductionofpro-allergiccytokineandchemokine.TheexpressionofmRNAwasdeterminedbyreversetranscriptionandrealtimePCR,andproteinproductionwasmeasuredbyenzyme-linkedimmunosorbentassay(ELISA),immunohistochemicalandimmunofluorescentstaining.ST2proteinwasdetectedindonorcornealepithelium,andST2signalwasenhancedbyexposuretoIL-33.·RESULTS:IL-33significantlystimulatedproductionofpro-allergiccytokinesthymicstromallymphopoietin(TSLP)andchemokine(CCL2,CCL20,CCL22)inHCECsatbothmRNAandproteinlevels.Thesestimulatedproductionsofpro-allergicmediatorsbyIL-33wereblockedbyST2antibodyorsolubleST2protein(P<0.05).Interestingly,theIκB-αinhibitorBAY11-7082orNF-κBactivationinhibitorquinazolineblockedNF-κBp65proteinnucleartranslocation,andalsosuppressedtheproductionsofthesepro-allergiccytokinesandchemokineinducedbyIL-33.CONCLUSION:ThesefindingsdemonstratethatIL-33/ST2signalingplaysanimportantroleinregulatingIL-33inducedpro-allergicresponses.IL-33andST2couldbecomenovelmoleculartargetsfortheinterventionofallergicdiseasesinocularsurface.

简介：AIM:Toinvestigatethediffusioncharacteristicsofwaterofopticnerveandopticradiationinhealthyadultsanditsrelatedfactorsbydiffusiontensorimaging（DTI）at3T.METHODS:Atotalof107healthyvolunteersperformedheadconventionalMRIandbilateralopticnerveandopticradiationDTI.TheprimarydataofDTIwasprocessedbypost-processingsoftwareofDTIstudio2.3,obtainingfractionalanisotropyvalue,meandiffusivityvalue,principalenginevalue,orthogonalenginevaluebymeasuring,andanalyzedbytheSPSS13.0statisticalsoftware.RESULTS:Thebilateralopticnerveandopticradiationfiberspresentedgreencolorindirectionalencodedcolor（DEC）mapsandpresentedhighsignalinfractionalanisotropy（FA）maps.TheFAvalueoftheleftopticnervewas0.598±0.069andtherightwas0.593±0.065;themeandiffusivity（MD）valueoftheleftopticnervewas（1.324±0.349）×10-3mm2/sandtherightwas（1.312±0.350）x10-3mm2/s;theprincipalenginevalue(λ?)oftheleftopticnervewas（2.297±0.522）×10-4mm2/sandtherightwas（2.277±0.526）×10-3mm2/s;theorthogonalenginevalue（λ⊥）oftheleftopticnervewas（0.838±0.285）×10-3mm2/sandtherightwas（0.830±0.280）×10-3mm2/s;theFAvalueoftheleftopticradiationwas0.636±0.057andtherightwas0.628±0.056;themeandiffusivity（MD）valueoftheleftopticradiationwas（0.907±0.103）×10-3mm2/sandtherightwas（0.889±0.125）×10-3mm2/s;theprincipaleigenvalue(λⅡ)oftheleftopticradiationwas（1.655±0.210）×10-3mm2/sandtherightwas（1.614±0.171）×10-3mn2/s;theorthogonalenginvalue（λ⊥）oftheleftopticradiationwas（0.531±0.103）×10-3mm2/sandtherightwas（0.524±0.152）×10-3m

简介：AIM:Toassesstheeffectofmyopiaonthethicknessofretinalnervefiberlayer(RNFL)measuredby3Dopticalcoherencetomography(3D-OCT)inagroupofnonglaucomatousChinesesubjects.METHODS:Twohundredandfifty-eighteyesof258healthyChinesemyopicindividualswererecruitedandfourgroupswereclassifiedaccordingtotheirsphericalequivalent(SE):lowmyopia(n=42,-0.503DOCT.TheRNFLthicknessesamongfoursamplegroupswereperformedbyone-wayanalysisofvariance(onewayANOVA)andleastsignificantdifferencetest(LSDtest).CorrelationsbetweenRNFLthicknessandaxiallength/sphericalequivalentwereperformedbylinearregressionanalysis.RESULTS:TheoverallRNFLparametersshownsignificantdifferencesbetweengroupsexcluding7,9,10,11o’clockhourthickness.TheRNFLthicknessofsuperior,nasal,inferior,averageand1,2,3,4,5,6,12o’clocksectorsweredecreasedwiththeincreasingaxiallengthandhigherdegreeofmyopia.Incontrast,asaxiallengthandthedegreeofmyopiaincreased,thetemporaland8,9o’clocksectorsthicknesseswereincreased.Aconsiderableproportionofmyopiceyeswereclassifiedasoutsidethenormallimits.Sixo’clockwasthemostnotableofthetotal,which43.4%wereoutsidethenormallimits.CONCLUSION:OnthemeasurementofRNFL,thecharacteristicsofRNFLwiththechangeofthedegreeofmyopiawereobserved.Asthedegreeofmyopiaincreases,theRNFLthicknessmeasuredby3D-OCTincludingtheaverageandsuperior,nasal,inferiorsectorsdecreases.AndduetothechangeofRNFLthickness,itshouldbeconsideredwhenusingOCTtoaccessforthedamageofglaucomaespeciallypeoplewithmyopia.

简介：AIM:ToIntroduceanewspecializedvisualacuitychartforamblyopicchildrenaged3-5yearsoldanditsclinicalapplications.METHODS:ThenewvisualacuitychartandnotationsweredesignedbasedonWeber-Fechnerlaw.Theoptotypeswereredagainstawhitebackgroundandwerespeciallyshapedfourbasicgeometricsymbols:circle,square,triangle,andcross.Aregulargeometricprogressionoftheoptotypesizesanddistributionwasemployedtoarrangein14lines.Theprogressionrateoftheoptotypesizebetweentwolineswas1.2589andthetestingdistancewas3m.VisualacuityscorecouldberecordedaslogMARnotationordecimalnotation.Agestratifieddiagnosticcriteriaforamblyopiaestablishedbyconsensusstatementondiagnosisofamblyopia(2011)amongmembersoftheStrabismusandPediatricOphthalmologyGroup,OphthalmologySociety,ChineseMedicalAssociation(SPOGOSCMA)wereillustratedinthenewvisualacuitychart.RESULTS:Whenassessingvisualacuityinchildrenaged3-5yearsold,thisnewvisualacuitychartthatconsistsoffoursymmetricalshapes(triangle,square,cross,andcircle)overcameaninabilitytorecognizethelettersofthealphabetanddifficultiesindesignatingthedirectionofblackabstractsymbolssuchasthetumbling’E’orLandolt’C’,whichthesubjectswerepronetoloseinterestin.Thevisualacuityscoremayberecordedindifferentnotations:decimalacuityandlogMAR.Thesetwonotationscanbeeasilyconvertedeachotherintheneweyechart.Themeasurementsofthisnewchartnotonlyshowedasignificantcorrelationandagoodconsistencywiththeinternationalstandardlogarithmicvisualacuitychart(r=0.932,P<0.01),butalsoindicatedahightest-retestreliability(89%ofretestscoreswerewithin0.1logMARunitsoftheinitialtestscore).CONCLUSION:Theresultsofthisstudysupportthevalidityandreliabilityofdistancevisualacuitymeasurementsusingtheneweyechartinchildrenaged3to5yearsoverawiderangeofvisualacuities,andtheneweyechartisgreatforearl

简介：AIM:Topresenttheoutcomeofmodifiedgridlaserphotocoagulation(GLP)indiffusediabeticmacularedema(DDME)ineyeswithoutextrafovealand/orvitreofovealtraction.METHODS:InclusioncriteriafortheretrospectivestudywereDDMEeyesofpatientswithtypeⅡdiabetesmellitusthathad≥4monthsoffollow-upfollowingGLP.Onlyoneeyeperpatientwasanalyzed.Using3-Dspectral-domainopticalcoherencetomography(3-DSDOCT),eyesthathadeitherextrafovealorvitreofovealtraction,orhadbeenpreviouslytreatedbyanintravitrealmedication(s)wereexcluded.TreatedDDMEeyesweredividedinto4groups:A)'Classic'DDMEthatinvolvedthecentralmacula;B)edemadidnotinvolvethemacularcenter;C)eyesassociatedwithcentralepiretinalmembrane(ERM);D)DDMEthatwasassociatedwithmacularcapillarydropout≥2disc-diameter(DD).RESULTS:GLPoutcomein35DDMEeyesafter4-24(mean,13.1±6.9)monthswasasfollows:GroupA)18eyeswith'classic'DDME.Followingoneor2(mean,1.2)GLPtreatments,best-correctedvisualacuity(BCVA)improvedby1-2Snellenlinesin44.4%(8/18)ofeyes,andworsenedby1linein11.1%(2/18).Centralmacularthickness(CMT)improvedby7%-49%(mean,26.6%)in77.8%(14/18)ofeyes.CausesofCMTworsening(n=4)werecommonlyexplainable,predominantly(n=3)associatedwithemergenceofextrafovealtraction,5-9monthspost-GLP.GroupB)GLP(s)inDDMEthatdidnotinvolvethemacularcenter(n=6)resultedinimprovedBCVAby1-2linesin2eyes.However,thecentralmaculabecameinvolvedintheedemaprocessaftertheGLPin3(50%)eyes,associatedwithanemergenceofextrafovealtractioninoneoftheseeyes4monthsfollowingtheGLP.GroupC)GLPfailedinall5eyesassociatedwithcentralERM.GroupD)GLPwasofpartialbenefitin2of6treatedeyeswithmacularcapillarydropout≥2DD.CONCLUSION:EyeswithDDMEthatinvolvedthemacularcenterwerefoundtoachievefavourableoutcomesafterGLP(s)duringmid-termfollow-up,unlesscomplicatedpre-GLPorpost-GLPbyvltreoretinalinterfaceabnormalities,oftenextrafovealtra

简介：AIM:ToinvestigatetheexpressionsoftypeIcollagen,α2integrinandβ1integrinintheposteriorscleraofguineapigswithdefocusmyopiaandwhetherbasicfibroblastgrowthfactor(bFGF)injectioninhibitstheformationanddevelopmentofmyopiabyupregulatingtheexpressionoftypeIcollagen,α2integrinandβ1integrin.METHODS:After14daysoftreatment,therefractivestateandaxiallengthweremeasuredandthelevelsoftypeIcollagen,α2integrinandβ1integrinwereassayedintheposteriorscleraeofgroupsofguineapigsthatworeamonocular-7Dpolymethylmethacrylate(PMMA)lensorhad-7DlenswearfollowedbytheperibulbarinjectionofPhosphateBufferSolution(PBS)orbFGF.Theuntreatedfelloweyeservedasacontrol.Guineapigswithnotreatmentservedasnormalgroup.·RESULTS:Theresultsshowedthat14daysofmonoculardefocusincreasedaxialeyelengthandrefraction,whilebFGFdeliveryinhibitedthemmarkedly.Further,itwasalsofoundthatthemonocular-7DlenscoulddecreasethelevelsoftypeIcollagen,α2integrinandβ1integrinexpressions,while,unlikePBS,bFGFincreasedthemsignificantlyincomparisontocontralateralcontroleyesandnormaleyes.CONCLUSION:bFGFcanpreventtheformationanddevelopmentofdefocusmyopiabyupregulatingtheexpressionsoftypeIcollagen,α2integrinandβ1integrin.Takentogether,ourresultsdemonstratethatbFGFpromotesscleraremodelingtopreventmyopiainguineapigs.

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：AIM:ToInvestigatetheeffectsoftransforminggrowthfactorβ2(TGF-β2)andconnectivetissuegrowthfactor(CTGF)ontransdifferentiationofhumanlensepithelialcells(HLECs)culturedinvitroandsynthesisofextracellularmatrix(ECM).METHODS:HLECsweretreatedwithTGF-β2(0,0.5,1.0,5,10μg/L)andCTGF(0,15,30,60,100μg/L)fordifferenttimes(0,24,48,72h)invitroandtheexpressionofα-smoothmuscleactin(α-SMA),themaincomponentoftheextracellularmatrixtypeⅠcollagen(Col-1)andfibronectin(Fn)weremeasuredbyusingreal-timepolymerasechainreaction(PCR)andwestern-blot.RESULTS:TGF-β2andCTGFsignificantlyincreasedexpressionofα-SMAmRNAandprotein(P<0.05,P<0.001),FnmRNAandprotein(P<0.001),Col-1mRNAandprotein(P<0.001).TGF-β2couldinduceHLECsexpressionofCTGFmRNAandproteinindosedependentmanner(P<0.05,P<0.001).TGF-β2andCTGFcouldinduceHLECstoexpressα-SMA,FnandCol-1intime-dependentmanner.EachtimeofTGF-β2andCTGFinducedHELCsexpressionofα-SMA,Fn,Col-1mRNAandproteinwassignificantincreasecomparedwithcontrol(P<0.05,P<0.001).CONCLUSION:TGF-β2andCTGFcouldinduceHLECsepithelialmesenchymaltransitionandECMsynthesis.