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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.

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简介：AIM:Todeterminewhetherretinalcirculatorychangesplayaroleinthepathogenesisofmaculardisordersinpatientswhoareotherwisehealthy.METHODS:Patientswithmaculardisordersthatrequiredangiographicimagingwereincludedinthisprospectivecaseseries.Afteracompleteocularexam,fluoresceinangiographywasperformedusingastandardizedtechniqueontheHRA-II(HeidelbergEngineering,Heidelberg,Germany)withspecialfocusontheposteriorpole.Onlypatientswithgoodqualityimageswereincludedintheanalysis.Circulatoryparametersrecordedincludedthearm-choroidtime,choroid-retinalartery,andfinallytheretinalartery-veintime.Zonalasymmetry(betweentheupperandlowerzonesdividedbyalinepassingthroughthecentreofthefovea)intransittimes,ifanywasalsonoted.Appropriatestatisticalanalysiswasdone.Circulationtimeswerecomparedwithagematchedhistoricalcontrols.Changesinretinaldyetransittimesrelativetohistoricalagematchedcontrols,ifany,werenotedandcomparedbetweenvariousdisorders.RESULTS:Atotalof156eyesof156patients(120males)wereincludedinthestudy.Meanage:49.14±14.93y.Maculardisordersstudiedwereagerelateddegeneration,polypoidalvasculopathy,centralserouschorioretinopathy(CSCR)andparafovealtelangiectasia.DelayedcirculationtimewasnotedinCSCRpatientsonly.CONCLUSION:CSCRpatientsappeartohavedelayedarterialfilling,retinalcirculatorydisturbancesdonotseemtocontributetothepathogenesisofothermaculardisorders.

简介：DearEditor,Vogt-Koyanagi-Harada(VKH)diseaseisacell-mediatedautoimmunesyndromedirectedagainstmelanocytes.Itisconsideredamultisystemdisordercharacterizedbygranulomatouspanuveitisoftenassociatedwithneurologicandcutaneousmanifestations.Thechoroidisthemainsiteof

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简介：在那些之中的服务和它有在一张农村南方印第安人population.METHODSA人口的单方的视觉缺陷(VI)的联系因素基于代表性的学习的眼睛照顾的利用上的AIMTo报告处于AndhraPradesh的状态在三个区域(Adilabad，Mahbubnagar和西方Godavari)被进行，印度。详细会见和全面眼睛考试被进行。那些关于在视觉并且在眼睛照顾服务的利用上注意任何变化与单方的VI被问问题。参加者为不利用服务报导的最重要的原因被用于分析。多重逻辑回归模型被用来检验在在象4456个参加者变老的VI.RESULTSAmong的住处，严厉和原因的年龄，性，教育和区域那样的视觉和socio人口统计的变量注意一个变化之间的协会16y被管理问询表，53.2%是女人，并且54.7%没有教育。489(11%；95%CI：10.1-11.9)有单方的VI的人，399(81.6%)参加者报导了在最后五年在他们的视觉注意一个变化但是仅仅136(34.1%)参加者寻求了眼睛照顾咨询。有任何教育的那些(或：1.9；95%CI：1.1-3.2)，有的盲目(或：2.7；95%CI：1.4-5.2)，并且奔流(或：2.1；95%CI：1.0-4.3)因为单方的VI的一个原因是相似的更多寻求，看照顾咨询。为不寻求眼睛照顾服务的最通常报导的原因是没有钱因为在30.7%参加者的眼睛检查列在后面由没有一个严重问题(30.0%)农村人口的大比例不过注意了的.CONCLUSIONA在他们的视觉的一个变化没寻求眼睛照顾由于金融并且人相关的原因。眼睛照顾服务供应商需要这些障碍到地址与单方的VI在那些之中提高眼睛照顾服务的举起。