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:Toaddressissuesininteroperabilitybetweendifferentfundusimagesystems,weproposedawebeyepicturearchivingandcommunicationsystem(PACS)frameworkinconformancewithdigitalimagingandcommunicationinmedicine(DICOM)andhealthlevel7(HL7)protocoltorealizefundusimagesandreportssharingandcommunicationthroughinternet.METHODS:Firstly,atelemedicine-basedeyecareworkflowwasestablishedbasedonintegratingthehealthcareenterprise(IHE)EyeCaretechnicalframework.Then,abrowser/serverarchitectureeye-PACSsystemwasestablishedinconformancewiththewebaccesstoDICOMpersistentobject(WADO)protocol,whichcontainsthreetiers.RESULTS:Inanyclientsysteminstalledwithwebbrowser,clinicianscouldlogintheeye-PACStoobservefundusimagesandreports.Multipurposeinternetmailextensions(MIME)typeofastructuredreportissavedaspdf/htmlwithreferencelinktorelevantfundusimageusingtheWADOsyntaxcouldprovideenoughinformationforclinicians.Somefunctionsprovidedbyopen-sourceOviyamcouldbeusedtoquery,zoom,move,measure,viewOICOMfundusimages.CONCLUSION:Suchwebeye-PACSincompliancetoWADOprotocolcouldbeusedtostoreandcommunicatefundusimagesandreports,thereforeisofgreatsignificanceforteleophthalmology.