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:Toinvestigatethepossiblerelationshipbetweentheinfluencingfactorsoccurringbeforeandduringbirthinfull-terminfantsandtheoutcomeofretinopathy.·METHODS:Totally816full-terminfantsadmittedintheneonateintensiveunitofBoaiHospitalofZhongshanbetween1May,2008and30June,2011wereincludedinthestudy.Fundusexaminationwasperformedandevaluatedindividuallyonthemattheageof48hoursafterdelivery,2weeksand1month.Somepossibleriskfactorshappeningprenatallyorduringdeliverysuchaspregnantrelatedhypertension,placentaprevia,placentalabruptionetc,aswellassomeneonatalriskfactorssuchasneonatalasphyxia,hypoxic-ischemicencephalopathy(HIE),lowbirthweightetc,wererecordedandevacuated.Thentheeffectoftheriskfactorsoffull-terminfantsonretinopathywasstudied.·RESULTS:Theincidenceofretinalhemorrhageoffull-terminfantswithprenatalpregnantrelatedhypertension(PRH)ofthemother(43.6%)wassignificantlyhigherthanthatoffull-terminfantswithout(8.0%).(P<0.001).Theincidenceofretinalhemorrhageoffull-terminfantswithneonatalasphyxiaand/orhypoxic-ischemicencephalopathy(HIE)(29.3%)wassignificantlyhigherthanthatofthosewithout(15.7%),butcorrelationwasnotfoundbetweentheseverityofretinahemorrhageandthedegreeofhypoxicdisease.Apalecolorofopticdiscwasassociatedwithalowbirthweightoffull-terminfant.Full-terminfantswithbirthweighlessthan2500ghadasignificanthigherincidenceofretinopathythanthosewithbirthweightequalormorethan2500g(P<0.001).·CONCLUSION:Themaininfluencingfactorswhichleadtoretinopathyofhighriskfull-terminfantsareprenatalfactorssuchasPRH,andsomeneonatalriskfactorssuchasasphyxia,hypoxic-ischemicencephalopathy,andlowbirthweight.
简介:目的探讨医院及家庭联合治疗大龄儿童弱视的临床效果。方法选择7~15岁的大龄儿童73例(113眼),采用医院及家庭联合实施弱视综合疗法对患儿进行治疗,并对临床资料进行总结、分析。结果113眼中有96眼有效,总有效率84.96%,其中基本痊愈61眼(53.98%)、进步35眼(30.97%)、无效17眼(15.93%)。17例无效眼中,屈光度超过±10.00D者6眼、斜视伴双眼无同视功能5眼、眼颤者1眼、散光超过4.00D者2眼、家庭不配合未坚持治疗者3眼。轻、中度弱视的疗效优于重度弱视;中心注视的疗效优于旁中心注视。结论医院及家庭联合治疗大龄儿童弱视能取得满意疗效,需要医务人员、家属和儿童的共同配合。只有充分调动弱视患儿成长环境中关系密切的群体力量,才能提高其治疗效果。因此对大龄儿童的弱视治疗,除科学、系统及规范的治疗外,还应积极地提高家庭支持度。
简介:<正>DearSir,IamDr.JingLi,fromtheDepartmentofOphthalmology,BeijingTongrenHospital,Beijing,China.IwanttopresentararecaseoforbitalRosai-Dorfmandiseasepresentingasunilaterallacrimalglandenlargementwithoutlymphadenopathyinvolvement.Rosai-Dorfmandiseaseisalsocalledsinushistiocytosiswithmassivelymphadenopathy(SHML),whichwasfirstdescribedbyRosaiandDorfmanin1969[1].Thisisarare,benign,idiopathichistiocyticproliferativedisorderthatoccurspredominantlyinchildren
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:AIM:Toinvestigatethetreatmentstatusandprognosisofspace-occupyinglacrimalglandlesionsatonetertiaryeyecenterinChina.·METHODS:Aretrospectiveclinicalstudywasperformedon95patientswithspace-occupyinglesionsofthelacrimalglandsurgicallytreatedattheEye&ENTHospitalofFudanUniversityfrom2003to2007.Thereviewedclinicaldataincludedage,gender,sideofthelesion,durationofsignsandsymptoms,histopathologicaldiagnosis,treatmentmodality,recurrence(local,regional,anddistantmetastasis)andsurvival.·RESULTS:Ofthe95cases(99eyes),pleomorphicadenomaswerethemostcommonlesions(43cases),followedbylymphoiddisorders(14),inflammatorypseudotumors(11),carcinomaex-pleomorphicadenomas(11),andadenoidcysticcarcinomas(ACC,6).Therewere8patientswithrelapsedpleomorphicadenomas.Fiveofthese8caseshadmalignantpathologicalchanges.AllpatientswithACChadmetastasisandthreeofthemdiedduringtheirfollow-up.·CONCLUSION:Ourstudyindicatedthatthemostcommonlacrimalglandlesionswerepleomorphicadenomas.Multiplerecurrenceandsurgicalproceduresmayincreasetheriskoftumorprogression.ACChadahighincidenceoftumormetastasisandapoorprognosis.
简介:《中国眼耳鼻喉科杂志》是由中华人民共和国教育部主管,复旦大学附属眼耳鼻喉科医院主办的全国性专业学术期刊,是中国科技核心期刊、复旦大学核心期刊。中国标准连续出版物号:ISSN1671-2420;CN31—1875/R。邮发代码:4—705,国外发行代号:BM3642。本刊面向全体眼科、耳鼻喉科医学工作者。宗旨在于促进国内外眼科、耳鼻喉科领域内重要科研成果的交流,加快技术与信息的传播,为临床工作者总结经验和提高业务水平提供学术交流园地。本刊编辑委员会汇集了国内外眼科和耳鼻喉科权威专家,由耳鼻喉科著名专家王正敏院士领衔主编。