Eur J Ophthalmol:双侧色素黄斑病和前段发育不良的罕见病例!

2017-12-09 cuiguizhong MedSci原创

英国伦敦国王学院医院和NHS基金会玛丽皇后医院眼科的Bloch E近日在Eur J Ophthalmol发表了他们的一项工作,首次报道了一例双侧色素性黄斑病和前段发育不良的独特病例。

英国伦敦国王学院医院和NHS基金会玛丽皇后医院眼科的Bloch E近日在Eur J Ophthalmol发表了他们的一项工作,首次报道了一例双侧色素性黄斑病和前段发育不良的独特病例。

色素性黄斑病可以在各种遗传性疾病和获得性疾病的背景下发生。由于发育异常,前段发育不全可能与全身性疾病相关,如Rieger综合征等。

他们报道了一例案例,一名49岁女性患者双眼的视力长期下降,前段发育不全,出现多发性色素沉着病变。视网膜电图检查结果证实是严重的黄斑功能障碍。基因阵列分析没有发现任何染色体形态不正常或其他特异性的异常。

因此,他们认为,这个病例是双侧色素性黄斑病和前段发育不全的独特病例,临床发现不属于先前报道的疾病的特征。

原文出处:

Bloch, E., M. Pefkianaki, and J. Hakim, An unusual case of bilateral pigmented maculopathy and anterior segment dysgenesis. Eur J Ophthalmol, 2017: p. 0.

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    2018-03-20 sunylz
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    2017-12-10 neurowu
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encryptionId=ef32e9539e8, topicName=罕见)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=29f36868190, createdName=syscxl, createdTime=Sun Dec 10 16:23:00 CST 2017, time=2017-12-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1522393, encodeId=412f1522393d1, content=<a href='/topic/show?id=46223e39897' target=_blank style='color:#2F92EE;'>#双侧#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=28, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=37398, encryptionId=46223e39897, topicName=双侧)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=741b11453403, createdName=wangbingxhy, createdTime=Sun Dec 10 16:23:00 CST 2017, time=2017-12-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1525114, encodeId=76f3152511466, content=<a href='/topic/show?id=65e91031337f' target=_blank style='color:#2F92EE;'>#黄斑#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=34, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=103133, encryptionId=65e91031337f, topicName=黄斑)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=638b11619344, createdName=muzishouyi, createdTime=Sun Dec 10 16:23:00 CST 2017, time=2017-12-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1541307, encodeId=2cf8154130ed7, content=<a href='/topic/show?id=5c961e37307' target=_blank style='color:#2F92EE;'>#THA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=17373, encryptionId=5c961e37307, topicName=THA)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=615b13300589, createdName=1249842em13(暂无昵称), createdTime=Sun Dec 10 16:23:00 CST 2017, time=2017-12-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1567963, encodeId=3cfb156e9638a, content=<a href='/topic/show?id=7a833e94079' target=_blank style='color:#2F92EE;'>#发育不良#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=24, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=37940, encryptionId=7a833e94079, topicName=发育不良)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=30b515313716, createdName=villahu, createdTime=Sun Dec 10 16:23:00 CST 2017, time=2017-12-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=267937, encodeId=ef7026e93751, content=学习一下谢谢, beContent=null, objectType=article, channel=null, level=null, likeNumber=61, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3zSn0GqHrsfLGSUSR8zwnWWLT4FMl5XH8S58HuZslVkLsAPbXDXaliagK7TOxQfmngKibG1yrDonepCLDkcxGk8hS/0, createdBy=b8282062892, createdName=changjiu, createdTime=Fri Dec 08 23:47:32 CST 2017, time=2017-12-08, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=267926, encodeId=184526e92660, content=非常好的文章.学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo7LIiaRZTzJ3SEfiauCzTMPW7YvPPYLNJBXG9oh6Al1icq2VQQkIHWxqXehcicTS62YKJVBhxeth3wggw/0, createdBy=7ce01621306, createdName=天涯183, createdTime=Fri Dec 08 23:19:14 CST 2017, time=2017-12-08, status=1, ipAttribution=)]
    2017-12-10 syscxl
  5. 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status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=267926, encodeId=184526e92660, content=非常好的文章.学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo7LIiaRZTzJ3SEfiauCzTMPW7YvPPYLNJBXG9oh6Al1icq2VQQkIHWxqXehcicTS62YKJVBhxeth3wggw/0, createdBy=7ce01621306, createdName=天涯183, createdTime=Fri Dec 08 23:19:14 CST 2017, time=2017-12-08, status=1, ipAttribution=)]
  6. 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content=<a href='/topic/show?id=7a833e94079' target=_blank style='color:#2F92EE;'>#发育不良#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=24, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=37940, encryptionId=7a833e94079, topicName=发育不良)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=30b515313716, createdName=villahu, createdTime=Sun Dec 10 16:23:00 CST 2017, time=2017-12-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=267937, encodeId=ef7026e93751, content=学习一下谢谢, beContent=null, objectType=article, channel=null, level=null, likeNumber=61, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3zSn0GqHrsfLGSUSR8zwnWWLT4FMl5XH8S58HuZslVkLsAPbXDXaliagK7TOxQfmngKibG1yrDonepCLDkcxGk8hS/0, createdBy=b8282062892, createdName=changjiu, createdTime=Fri Dec 08 23:47:32 CST 2017, time=2017-12-08, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=267926, encodeId=184526e92660, content=非常好的文章.学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo7LIiaRZTzJ3SEfiauCzTMPW7YvPPYLNJBXG9oh6Al1icq2VQQkIHWxqXehcicTS62YKJVBhxeth3wggw/0, createdBy=7ce01621306, createdName=天涯183, createdTime=Fri Dec 08 23:19:14 CST 2017, time=2017-12-08, status=1, ipAttribution=)]
    2017-12-10 muzishouyi
  7. 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status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=267926, encodeId=184526e92660, content=非常好的文章.学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo7LIiaRZTzJ3SEfiauCzTMPW7YvPPYLNJBXG9oh6Al1icq2VQQkIHWxqXehcicTS62YKJVBhxeth3wggw/0, createdBy=7ce01621306, createdName=天涯183, createdTime=Fri Dec 08 23:19:14 CST 2017, time=2017-12-08, status=1, ipAttribution=)]
  8. 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  9. 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content=<a href='/topic/show?id=7a833e94079' target=_blank style='color:#2F92EE;'>#发育不良#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=24, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=37940, encryptionId=7a833e94079, topicName=发育不良)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=30b515313716, createdName=villahu, createdTime=Sun Dec 10 16:23:00 CST 2017, time=2017-12-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=267937, encodeId=ef7026e93751, content=学习一下谢谢, beContent=null, objectType=article, channel=null, level=null, likeNumber=61, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3zSn0GqHrsfLGSUSR8zwnWWLT4FMl5XH8S58HuZslVkLsAPbXDXaliagK7TOxQfmngKibG1yrDonepCLDkcxGk8hS/0, createdBy=b8282062892, createdName=changjiu, createdTime=Fri Dec 08 23:47:32 CST 2017, time=2017-12-08, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=267926, encodeId=184526e92660, content=非常好的文章.学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo7LIiaRZTzJ3SEfiauCzTMPW7YvPPYLNJBXG9oh6Al1icq2VQQkIHWxqXehcicTS62YKJVBhxeth3wggw/0, createdBy=7ce01621306, createdName=天涯183, createdTime=Fri Dec 08 23:19:14 CST 2017, time=2017-12-08, status=1, ipAttribution=)]
    2017-12-08 changjiu

    学习一下谢谢

    0

  10. 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content=<a href='/topic/show?id=7a833e94079' target=_blank style='color:#2F92EE;'>#发育不良#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=24, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=37940, encryptionId=7a833e94079, topicName=发育不良)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=30b515313716, createdName=villahu, createdTime=Sun Dec 10 16:23:00 CST 2017, time=2017-12-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=267937, encodeId=ef7026e93751, content=学习一下谢谢, beContent=null, objectType=article, channel=null, level=null, likeNumber=61, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3zSn0GqHrsfLGSUSR8zwnWWLT4FMl5XH8S58HuZslVkLsAPbXDXaliagK7TOxQfmngKibG1yrDonepCLDkcxGk8hS/0, createdBy=b8282062892, createdName=changjiu, createdTime=Fri Dec 08 23:47:32 CST 2017, time=2017-12-08, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=267926, encodeId=184526e92660, content=非常好的文章.学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo7LIiaRZTzJ3SEfiauCzTMPW7YvPPYLNJBXG9oh6Al1icq2VQQkIHWxqXehcicTS62YKJVBhxeth3wggw/0, createdBy=7ce01621306, createdName=天涯183, createdTime=Fri Dec 08 23:19:14 CST 2017, time=2017-12-08, status=1, ipAttribution=)]
    2017-12-08 天涯183

    非常好的文章.学习了

    0