简介：视网膜色素变性(retinitispigmentosa,RP)是一种发病机制尚未完全明确的遗传性疾病,其在遗传和表型上具有较大的异质性.其中常染色体显性遗传视网膜色素变性(autosomadominantretintispigmentosa,ADRP)占RP的20%～25%,目前发现至少有19个致病基因,其中11个已被克隆.本文将就ADRP的相关致病基因的研究进展作一综述.

简介：白内障手术发展至今多已采用超声乳化术,连续环形撕囊是该手术中非常重要的一个步骤,但是对于过熟期或是白色白内障等类型,由于在显微镜下没有红光反射,故这一步骤往往不能顺利完成,这就需要囊膜染色剂的辅助。本文将介绍几种经典的囊膜染色剂,为手术中染色剂的选择提供参考。

简介：目的探讨白内障防盲手术中透明质酸酶和亚甲蓝染色对麻醉效果和连续环形撕囊成功率及对手术效果的影响。方法100例（100眼）白色白内障随机分为2组进行前瞻性研究。球周麻醉中加入透明质酸酶及改良亚甲蓝前囊膜染色组53例,对照组（球周麻醉中不加入透明质酸酶和前囊不染色）47例。球周麻醉后,行现代白内障囊外摘除及人晶状体植入术。比较环形撕囊成功率、术中并发症、术后反应情况、视力、眼压。结果2组术中撕囊成功率及人工晶状体体囊袋内植入率均有差别,与对照组相比差异有统计学意义;2组术后反应情况、视力、眼压无统计学意义。结论球周麻醉中加入透明质酸酶及改良亚甲监染色明显提高连续环形撕囊成功率。降低白内障手术并发症,无明显副作用,且廉价易得,适合在防盲白内障手术中推广。

简介：AIM:Toexploretheeffectofsaturatedhydrogensalineonbluelight-inducedretinaldamageinrats.·METHODS:Theretinaldamageofratswasinducedbybluelightexposurefor6hoursandexamined8hours,16hoursand24hoursaftertheexposure.OnehundredfemaleSprague-Dawleyratswererandomlydividedintofourgroups.Group1included30ratsreceivedlightexposurewithoutanyothertreatment.Group2included30ratsreceivedlightexposurewithintraperitonealinjectionofnormalsaline.Group3included30ratsreceivedlightexposurewithintraperitonealinjectionofsaturatedhydrogensaline.AndGroup4includedtheother10ratswhichdidnotreceiveanytreatment.Theamountofintraperitonealinjectionofsaturatedhydrogensalineandnormalsalinewascalculatedintheratioof1ml/100gofratweight.SpecimenswerecollectedandprocessedbyH-Estaining,ultrastructureobservation,biochemicalmeasurement.Morphologicalchangeswereobservedbylightmicroscopeandtransmissionelectronmicroscope(TEM)andtheretinalouternuclearlayer(ONL)thicknesswasmeasuredbyIPP6.0,whilethemalondialdehyde(MDA)wasmeasuredbycolorimetricdeterminationat532nm.·RESULTS:AlthoughthestructureofretinainGroup1andGroup2wasinjuredheavily,theinjuryinGroup3wasmild.ThedifferencesbetweenGroup1andGroup2werenotsignificant.ComparedwiththeratsinGroup1andGroup2,theonesinGroup3hadmoreclearlydemarcatedretinastructureandmoreorderedcellsbylightmicroscopeandTEMobservation.TheONLthicknesses(400times)offourgroupsateachtimepointexceptbetweenGroup1andGroup2weresignificantlydifferent(P<0.05).ThethicknessesoftheONLinGroup1atthreetimepointswere30.41±4.04μm,26.11±2.82μmand20.63±1.06μm,inGroup2were31.62±4.54μm,25.08±3.63μmand19.07±3.86μm,inGroup3were29.75±3.62μm,28.83±1.97μmand27.61±1.83μm.InGroup4themeanofthethicknesswas37.35±1.37μm.Astimewentby,thedamageg

简介：目的：对一个常染色体显性遗传的先天性脉络膜缺损家系进行ABCB6基因的突变筛查,明确致病基因。方法：近来有报道ABCB6基因突变可导致先天性脉络膜缺损,我们搜集了一个中国汉族先天性脉络膜缺损家系,采集家系成员及一百位正常对照人群的静脉血5mL,使用PCR产物直接测序对ABCB6基因进行突变筛查。结果：在该家系中我们发现了一个新突变（c.1380c〉a）,该突变在家系中与疾病表型共分离,并且在100名正常对照中均未发现该突变。结论：我们的研究结果扩大了ABCB6基因的突变谱,进一步确认了该基因在眼组织缺损发病中发挥了重要作用。