简介：AIM:Tocharacterizetheclinicalfeatures,diagnosis,treatmentandprognosisofuveitisassociatedwithankylosingspondylitis(AS)inChinesepatients.·METHODS:TwohundredandthreepatientswithuveitisassociatedwithASfollowed-upintheThirdMilitaryMedicalUniversityDapingHospitalbetween2005and2010wereretrospectivelyevaluatedinthisstudy.Completeophthalmologicalexaminationswereevaluatedatbaselineandduringthefollow-upperiod.Thegender,age,follow-uptime,meanfrequencyofuveitisonset,andaccompanyingeyeexaminationfindings,history,demographicalparameterswerereviewed.Allthepatientspresentedcompleteclinicalandradiologic(sacroiliac,lumbar,dorsalandcervicalspine,knee,ankle,shoulder,hip,elbow)evaluation.HLA-B27typingwasalsosearched.·RESULTS:Therewere203patientsdiagnosedwithASassociateduveitis.AllshowedsacroiliacX-raychangesindicativeofAS.Therewere184maleand19femalepatients.Theaverageageofpatientswas35±12(range18-50).Meanfollow-upperiodwas2.4years(1-5years).Acuteanterioruveitiswasthemostcommontypeofuveitisinbothgenders.121eyespresentedunilateralinvolvement(55.2%),and92eyespresentedbilateralinvolvement(45.3%)withonsetalternately.22eyesoccurredhypopyon,16eyeswerefoundanteriorvitreouscells,7eyeswerenotedreactivemacularedemaorexudation,29eyespresentedposteriorsynechiaeofiris,and14eyespresentedcataract,9eyespresentedsecondaryglaucoma,2eyespresentedbendcornealdegenerationand1eyespresentedatrophyofeyeball.Atthefinalvisit,uveitiswaswellcontrolledinmostpatients.·CONCLUSION:ASassociatedwithuveitisinChinesepatientsmainlymanifestsasacuteanterioruveitis.AcombinationofcorticosteroidswithothermydriasisagentsiseffectiveformostASassociatedwithuveitispatients.Ingeneral,theprognosisisgoodinthesecases.

简介：

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.