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:Toestimatetheprevalenceandriskfactorsforvitreousfloatersinthegeneralpopulation.·METHODS:Anelectronicsurveywasadministeredthroughasmartphoneappaskingvariousdemographicandhealthquestions,includingwhetherusersexperiencefloatersintheirfieldofvision.Multivariatelogisticregressionanalysiswasusedtodetermineriskfactors.·RESULTS:Atotalof603individualscompletedthesurvey,with76%reportingthattheyseefloaters,and33%reportingthatfloaterscausednoticeableimpairmentinvision.Myopeswere3.5timesmorelikely(P=0.0004),andhyperopes4.4timesmorelikely(P=0.0069)toreportmoderatetoseverefloaterscomparedtothosewithnormalvision.Floaterprevalencewasnotsignificantlyaffectedbyrespondentage,race,gender,andeyecolor.·CONCLUSION:Vitreousfloaterswerefoundtobeaverycommonphenomenoninthisnon-clinicalgeneralpopulationsample,andmorelikelytobeimpairinginmyopesandhyperopes.
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:·Thisisacasepresentationofaverybizarreopenglobetraumawithanteriorsegmentforeignbody-fishinghookstuckinthecorneaandiris.Complicationsduetothiskindofeyetraumamightbeveryhazardousandwithseriousimpactonvisualfunction.Wearerepresentingourapproachandexperienceofthreestepmanagementofthiskindofeyeinjury:first-extracttheforeignbody,closeandreconstructtheeyeball,second-fightinflammation,andthird-restorethevisualfunctionbycataractsurgery.·
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:Thedamageofhumancornealcellsencounterwiththeproblemofavailabilityofcornealcellsforreplacement.Limitationofthesourceofcornealcellshasbeenrealized.Anattemptofdevelopmentofcornealepithelial-likecellsfromthehumanskin-derivedprecursor(hSKPs)hasbeenmadeinthisstudy.Combinationofthreeessentialgrowthfactors:epidermalgrowthfactor(EGF),keratinocytegrowthfactor(KGF)andhepatocytegrowthfactor(HGF)coulddemonstratesuccessfullyinductionofhSKPstodifferentiationintocornealcells.Theinducedcellsexpressedtheappearanceofmarkersofcornealepithelialcellsasshownbythepresenceofkeratin3(K3)byantibodylabelandWesternblotassay.TheK3geneexpressionofinducedhSKPscellsasshownbyreversetranscription-polymerasechainreaction(RT-PCR)technologywasalsodemonstrated.ThepresenceofthesemarkersatbothgeneandproteinlevelscouldleadtoourconclusionthatthedirectionaltransdifferentiationofhSKPscellsintocornealepithelialcellswassuccessfullydoneunderthiscellinductionprotocol.Thefindingshowsanewlyavailablestemcellsourcecanbeobtainedfromeasilyavailableskin.Cellsfromautologoushumanskinmightbeusedforcornealdisordertreatmentinfutureclinicalapplication.
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