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Retina: ABCA4的 p.N1868I突变对STARGARDT病人的临床表征

2018-09-22 MedSci MedSci原创

Pangere遗传性视网膜疾病中心的Collison FT和纽约哥伦比亚大学眼科的Lee W近日在Retina杂志上发表了一项重要研究,他们研究了不常见的和"极度同态"ABCA4变体相关的Stargardt疾病表型,即p.N1868I。

Pangere遗传性视网膜疾病中心的Collison FT和纽约哥伦比亚大学眼科的Lee W近日在Retina杂志上发表了一项重要研究,他们研究了不常见的和"极度同态"ABCA4变体相关的Stargardt疾病表型,即p.N1868I。

他们对在一个等位基因上的p.N1868I和在另一个等位基因上的严重/有害突变的27例患者进行回顾研究。记录27名患者的主观发病年龄、最佳矫正视力和疾病分期,其中18名患者出现多次就诊。记录包括眼底照相、光谱域光学相干断层扫描、眼底自发荧光、全视野视网膜电图、Goldmann视野和荧光血管造影等诊断结果。对有多个成员受影响的5个家庭进行分析。

研究结果表明,症状发作的中位年龄为41.5岁,并且3 p.N1868I患者在最近的眼科检查中并没有出现视觉症状。眼睛基线视力最佳矫正视力中位数为20/25,从症状发作到确诊失明的持续时间为25年。这项研究中描述的五个家族表现出临床上显着的家族内变异性,并且没有发生p.N1868I突变的病变家庭成员具有相对更严重的表型。

因此,这项研究证实了p.N1868I相关的Stargardt病中黄斑中心凹变化、发病年龄的变化、家庭内变异性和预后等。

原文出处:

Collison, F.T., et al., CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION. Retina, 2018.

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    2019-07-05 ysjykql
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    2018-09-22 1e1b8538m79(暂无匿称)

    不错的文章值得拥有哦

    0

  6. [GetPortalCommentsPageByObjectIdResponse(id=1913889, encodeId=a2cc1913889a0, content=<a href='/topic/show?id=4684153e41f' target=_blank style='color:#2F92EE;'>#RET#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=53, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=15374, encryptionId=4684153e41f, topicName=RET)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=96d4340, createdName=ysjykql, createdTime=Fri Jul 05 08:06:00 CST 2019, time=2019-07-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1777083, encodeId=c2411e770830c, content=<a href='/topic/show?id=45ae1e1830' target=_blank style='color:#2F92EE;'>#ABC#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=62, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=1718, encryptionId=45ae1e1830, topicName=ABC)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=a54039078223, createdName=cmj21wellington, createdTime=Sun Oct 14 17:06:00 CST 2018, time=2018-10-14, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1797551, encodeId=c4a01e9755141, content=<a href='/topic/show?id=7b932300084' target=_blank style='color:#2F92EE;'>#临床表征#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=49, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=23000, encryptionId=7b932300084, topicName=临床表征)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=55f6293, createdName=lishizhe, createdTime=Sun Mar 17 20:06:00 CST 2019, time=2019-03-17, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1793309, encodeId=e0ef1e93309bf, content=<a href='/topic/show?id=5400153e639' target=_blank style='color:#2F92EE;'>#Retina#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=63, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=15376, encryptionId=5400153e639, topicName=Retina)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=0d342500153, createdName=12498bf3m25暂无昵称, createdTime=Mon Mar 18 14:06:00 CST 2019, time=2019-03-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=346204, encodeId=300934620429, content=不错的文章值得拥有哦, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=eff51996281, createdName=1e1b8538m79(暂无匿称), createdTime=Sat Sep 22 22:53:23 CST 2018, time=2018-09-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=346193, encodeId=ba66346193dd, content=了解一下,谢谢分享!, beContent=null, objectType=article, channel=null, level=null, likeNumber=82, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cdnapi.center.medsci.cn/medsci/head/2019/12/23/2f51002e1349ccda5be11c1eea1e1e60.jpg, createdBy=a22097948, createdName=天地飞扬, createdTime=Sat Sep 22 20:21:20 CST 2018, time=2018-09-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=346188, encodeId=51b3346188c8, content=感谢小编为我们准备了如此丰盛的精神大餐,同时也向作者致谢!认真学习了,点赞!, beContent=null, objectType=article, channel=null, level=null, likeNumber=77, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=30251637888, createdName=lietome15, createdTime=Sat Sep 22 19:50:21 CST 2018, time=2018-09-22, status=1, ipAttribution=)]
    2018-09-22 天地飞扬

    了解一下,谢谢分享!

    0

  7. [GetPortalCommentsPageByObjectIdResponse(id=1913889, encodeId=a2cc1913889a0, content=<a href='/topic/show?id=4684153e41f' target=_blank style='color:#2F92EE;'>#RET#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=53, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=15374, encryptionId=4684153e41f, topicName=RET)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=96d4340, createdName=ysjykql, createdTime=Fri Jul 05 08:06:00 CST 2019, time=2019-07-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1777083, encodeId=c2411e770830c, content=<a href='/topic/show?id=45ae1e1830' target=_blank style='color:#2F92EE;'>#ABC#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=62, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=1718, encryptionId=45ae1e1830, topicName=ABC)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=a54039078223, createdName=cmj21wellington, createdTime=Sun Oct 14 17:06:00 CST 2018, time=2018-10-14, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1797551, encodeId=c4a01e9755141, content=<a href='/topic/show?id=7b932300084' target=_blank style='color:#2F92EE;'>#临床表征#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=49, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=23000, encryptionId=7b932300084, topicName=临床表征)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=55f6293, createdName=lishizhe, createdTime=Sun Mar 17 20:06:00 CST 2019, time=2019-03-17, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1793309, encodeId=e0ef1e93309bf, content=<a href='/topic/show?id=5400153e639' target=_blank style='color:#2F92EE;'>#Retina#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=63, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=15376, encryptionId=5400153e639, topicName=Retina)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=0d342500153, createdName=12498bf3m25暂无昵称, createdTime=Mon Mar 18 14:06:00 CST 2019, time=2019-03-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=346204, encodeId=300934620429, content=不错的文章值得拥有哦, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=eff51996281, createdName=1e1b8538m79(暂无匿称), createdTime=Sat Sep 22 22:53:23 CST 2018, time=2018-09-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=346193, encodeId=ba66346193dd, content=了解一下,谢谢分享!, beContent=null, objectType=article, channel=null, level=null, likeNumber=82, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cdnapi.center.medsci.cn/medsci/head/2019/12/23/2f51002e1349ccda5be11c1eea1e1e60.jpg, createdBy=a22097948, createdName=天地飞扬, createdTime=Sat Sep 22 20:21:20 CST 2018, time=2018-09-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=346188, encodeId=51b3346188c8, content=感谢小编为我们准备了如此丰盛的精神大餐,同时也向作者致谢!认真学习了,点赞!, beContent=null, objectType=article, channel=null, level=null, likeNumber=77, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=30251637888, createdName=lietome15, createdTime=Sat Sep 22 19:50:21 CST 2018, time=2018-09-22, status=1, ipAttribution=)]
    2018-09-22 lietome15

    感谢小编为我们准备了如此丰盛的精神大餐,同时也向作者致谢!认真学习了,点赞!

    0

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