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小口病1例

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摘要 患者男性,6岁。因双眼夜间视物模糊2年来我院就诊。查体:视力双眼1.0,眼压:右眼15 mm Hg(1 mm Hg=0.133 k Pa),左眼16 mm Hg,双眼结膜无充血,角膜透明,前房深度可,瞳孔圆,直径约3 mm,对光反射可,晶状体透明,眼底:视盘边界清,C/D〈0.3,动静脉颜色均呈暗红色,不易区分,部分动脉周边区血管一侧有白线,一侧有暗影,后极部视网膜平伏,后极部眼底呈锡箔样灰白色调,周边视网膜可见灰黑色大小不等密集斑块,黄斑中心凹反光存(图1)。未行眼底血管荧光造影检查,患者不能配合视野、ERG检查。
出处 《临床眼科杂志》 2015年第6期541-541,共1页 Journal of Clinical Ophthalmology
作者简介 通讯作者:项勇刚(Email:xiangyonggang2013@163.com)
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参考文献5

  • 1Bergsma DR Jr,Chen CJ.The Mizuo phenomenon in Oguchi dis- ease.Arch Ophthalmol,1997,115:560.
  • 2Fujinami K,Tsunoda K,Nakamura M,et al.Oguchi disease with unusual findings associated with a heterozygous mutation in the SAG gene.Arch Ophthalmol,2011,129:1375.
  • 3黄厚斌,李莹,陈兵,刘晓萃,阴正勤.小口病一例[J].中华眼科杂志,2013,49(12):1126-1128. 被引量:1
  • 4吕永顺,杨钧.小口病二例[J].中华眼科杂志,2000,36(2):152-153. 被引量:5
  • 5王文清,杨建国.小口氏病的眼电生理表现(附一例报告).上海医学,1996,19:118.

二级参考文献19

  • 1Huang L,Li W,Tang W,et al.A Chinese family with Oguchi's disease due to compound heterozygosity including a novel deletion in the arrestin gene.Mol Vis,2012,18:528-536.
  • 2姜利斌,陈长征.小口病(Oguchi's Disease)//三宅养生.视网膜疾病电生理诊断.北京:北京科学技术出版社,2010:119-122.
  • 3黄叔仁,张晓峰.小口病//黄叔仁,张晓峰.眼底病诊断与治疗.2版.北京:人民卫生出版社,2008:182-184.
  • 4Waheed NK,Qavi AH,Malik SN,et al.A nonsense mutation in Santigen (p.Glu306 *) causes Oguchi disease.Mol Vis,2012,18:1253-1259.
  • 5Fujinami K,Tsunoda K,Nakamura M,et al.Oguchi disease with unusual findings associated with a heterozygous mutation in the SAG gene.Arch Ophthalnol,2011,129:1375-1376.
  • 6Azam M,Collin RW,Khan MI,et al.A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.Mol Vis,2009,15:1788-1793.
  • 7Oishi A,Akimoto M,Kawagoe N,et al.Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease.Am J Ophthalmol,2007,144:475-477.
  • 8Hayashi T,Gekka T,Takeuchi T,et al.A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses.Ophthalmology,2007,114:134-141.
  • 9Godara P,Cooper RF,Sergouniotis PI,et al.Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease.Am J Ophthalmol,2012,154:987-1001,el.
  • 10Hashimoto H,Kishi S.Shortening of the rod outer segment in Oguchi disease.Graefes Arch Clin Exp Ophthalmol,2009,247:1561-1563.

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