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首页 > 学术期刊 > 中华眼底病杂志 > 2007年3期 > 蓝锥细胞增强症

蓝锥细胞增强症

蓝锥细胞增强症(ESCS)是一种少见的常染色体隐性遗传性视网膜疾病,通常与NR2E3突变相关常染色体隐性遗传有关.成年人主要表现为夜盲,眼底检查可以发现黄斑拱环周围视网膜深层团状色素沉着,不同程度的视网膜劈裂;儿童主要表现为夜盲、调节性内斜视以及视网膜损害.特征为视杆细胞功能缺失、S视锥细胞数量增多和功能异常增强、夜盲、视网膜电图明视反应以S视锥细胞介导的大振幅波为主.

作 者：
左成果 邢怡桥 陈长征  
作者单位：
430060,武汉大学人民医院眼科 
刊 名：
中华眼底病杂志  ISTIC PKU
英文刊名：
CHINESE JOURNAL OF OCULAR FUNDUS DISEASES 
年，卷(期)：
2007 23(3) 
分类号：
R596 Q344 
关键词：
遗传性疾病,先天性 知识脉络  基因,隐性 知识脉络  突变 知识脉络 
机标分类号：
R77 R54 
机标关键词：
细胞数量常染色体隐性遗传遗传性视网膜疾病调节性内斜视视网膜劈裂视网膜电图增强眼底检查细胞介导视杆细胞色素沉着功能异常功能缺失大振幅波成年人特征损害黄斑儿童程度 
基金项目：
 
DOI：
 
参考文献(21条)
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  2. Jurklies B.Weismann M.Kellner U Clinical findings in autosomal recessive syndrome of blue cone hypersensitivity 2001
  3. Nakamura M.Hotta Y.Piao CH Enhanced S-cone syndrome with subfoveal neovascularization 2002
  4. Hayashi T.Kitahara K Optical coherence tomography in enhanced S-cone syndrome:large macular retinoschisis with disorganized retinal lamination 2005
  5. Usui T.Ichibe M.Tanimoto N Ocular fundus images by scanning laser ophthalmoscopy in a patient with enhanced S-cone syndrome 2004
  6. Khan AO.Aldahmesh M.Meyer B The enhanced S-cone syndrome in children 2007
  7. Haider NB.Naggert JK.Nishina PM Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice 2001
  8. Sharon D.Sandberg MA.Caruso RC Shared mutations in NR2E3 in enhanced S-cone syndrome,Goldmann-Favre syndrome,and many cases of clumped pigmentary retinal degeneration 2003
  9. Haider NB.Demarco P.Nystuen AM The transcription factor Nr2e3 functions in retinal progenitors to suppress cone cell generation 2006
  10. Milam AH.Rose L.Cideciyan AV The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration 2002
  11. Haider NB.Naggert JK.Nishina PM Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice 2001
  12. Wright AF.Reddick AC.Schwartz SB Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome 2004
  13. Hayashi T.Gekka T.Goto-Omoto S Novel NR2E3 mutations (R104Q,R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity 2005
  14. Peng GH.Ahmad O.Ahmad F The photoreceptorspecific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes 2005
  15. Sharon D.Sandberg MA.Caruso RC Shared mutations in NR2E3 in enhanced S-cone syndrome,Goldmann-Favre syndrome,and many cases of clumped pigmentary retinal degeneration 2003
  16. Cideciyan AV.Jacobson SG.Gupta N Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S-cone syndrome caused by mutations in NR2E3 2003
  17. Fradot M.Lorentz O.Wurtz JM The loss of transcriptional inhibition by the photoreceptor-cell specific nuclear receptor (NR2E3) is not a necessary cause of enhanced S-cone syndrome 2007
  18. Corbo JC.Cepko CL A hybrid photoreceptor expressing both rod and cone genes in a mouse model of enhanced S-cone syndrome 2005
  19. Marmor MF.Tan F.Sutter EE Topography of cone electrophysiology in the enhanced S-cone syndrome 1999
  20. Marmor MF A teenager with nightblindness and cystic maculopathy:enhanced S-cone syndrome 2006
  21. Yamamoto S.Hayashi M.Takeuchi S Electroretinograms and visual evoked potentials elicited by spectral stimuli in a patient with enhanced S-cone syndrome 1999

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