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Goldmann—Favre综合征二例 被引量：3

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摘要 Goldmann-Fayre综合征是一种少见的常染色体隐性遗传疾病，其典型表现包括早期夜盲、双眼视力进行性下降、眼底不典型的视网膜色素萎缩性改变及玻璃体的退行性变。此外，可以合并有白内障、视网膜或黄斑劈裂、黄斑水肿，全视野闪光视网膜电图有特征性改变。我院曾于2003至2007年收治2例Gotdmann-Favre综合征患者，现将其临床资料分析报告如下。
作者 王凯 黎晓新 姜燕荣
机构地区 北京大学人民医院眼科
出处 《中华眼科杂志》 CAS CSCD 北大核心 2008年第9期847-850,共4页 Chinese Journal of Ophthalmology
关键词 GOLDMANN 综合征 常染色体隐性遗传疾病 全视野闪光视网膜电图 视网膜色素 黄斑水肿 特征性改变 双眼视力
分类号 R686 [医药卫生—骨科学]
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参考文献13

  • 1Nasr YG, Cherfan GM, Michels RG, et al. Goldmann-Favre maculopathy. Retina, 1990,10:175-180.
  • 2Fishman GA, Jampol LM, Goldberg MF. Diagnostic features of the Goldmann-Favre syndrome. Br J Ophthalmol, 1976,60:345- 353.
  • 3Green JL Jr, Jampol LM. Vascular opaeiflcation and leakage in X- linked (juvenile) retinoschisis. Br J Ophthalmol, 1979,63:368- 373.
  • 4Chavala SH, Sail A, Lewis H, et al. An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome. Br J Ophthalmol, 2005,89 : 1065-1066.
  • 5Izumi K, Matsuhashi M. Goldmann-Favre syndrome in a four- year-old-girl. Doc Ophthalmol, 1987,66:219-226.
  • 6Jacobson SG, Roman AJ, Roman MI, et al. Relatively enhanced S-cane function in the Goldmann-Favre syndrome. Am J Ophthalmol, 1991,111:446-453.
  • 7Peyman GA, Fishman GA, Sanders DR, et al. Histopathology of Goldmann-Favre syndrome obtained by full-thickness eye-wall biopsy. Ann Ophthalmol, 1977,9:479-484.
  • 8睢瑞芳,赵家良.先天性静止性夜盲[J].中华眼科杂志,2006,42(5):472-475. 被引量：8
  • 9Fishman GA, Fishman M, Maggiano J. Macular lesions associated with retinitis pigmentosa. Arch Ophthalmol, 1977,95:798-803.
  • 10Marmor MF. A teenager with nightblindness and cystic maculopathy: Enhanced S-cone syndrome (Goldmann-Favre syndrome). Doc Ophthalmol, 2006,113:213-215.

二级参考文献31

  • 1赵朝霞,董应丽,李蕴随,尹卫靖,郭希让.视网膜色素变性和先天性静止性夜盲的mERG检查[J].眼科研究,2003,21(3):282-285. 被引量：2
  • 2Boycott KM, Pearce WG, Musarella MA, et al. Evidence for genetic heterogeneity in X-linked congenital stationary night blindness. Am J Hum Genet, 1998,62:865-875.
  • 3Bech-Hansen NT, Naylor MJ, Maybaum TA, et al. Loss-of-functionmutations in a calcium-channel alpha-l-subunit gene in Xpll. 23 cause incomplete X-linked congenital stationary night blindness. Nat Genet, 1998,19 : 264-267.
  • 4Strom TM, Nyakatura G, Apfelstedt-SyllaE, et al. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nat Genet, 1998,19 : 260-263.
  • 5Boycott KM, Pearce WG, Bech-Hansen NT. Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F. Can J Ophthalmol,2000,35:204-213.
  • 6Yong RS, Chaparro A, Price J, et al. Oscillatory potentials of Xlinked carriers of congenital stationary night blindness ( I-CSNB ).Invest Ophthalmol Vis Sci, 1989, 30: 806-812.
  • 7Rigaudiere F, Roux C, Lachapelle p, et al. ERGs in female carriers of incomplete congenital stationary night blindness. Doc Ophthalmol,2003, 107: 203-212.
  • 8Sieving PA. Photopic ON- and Off-pathway abnormalities in retinal dystrophies. Trans Am Ophthahnol, 1993, 91.701-773.
  • 9Langrova H,Gamer D,Friedberg C,et al.Abnormalities of the long flash ERG in congetnital stationary aight blindness of the SchubertBomschein. Vis Res, 2002, 42 : 1475-1483.
  • 10Musarella MA, Weleber BG, Murphey WH, et al. Assignment of the gene for complete X-linked congenital stationary night blindness( CSNB1 ) to human chromosome Xp11.3. Genomics, 1989,5 : 727-737.

共引文献7

同被引文献13

  • 1左成果,邢怡桥,陈长征.蓝锥细胞增强症[J].中华眼底病杂志,2007,23(3):228-230. 被引量：1
  • 2Madhavendra Bhandafi, Rajni Rajah, Tandava Kristman, et al. Morphological and functional correlates in Goldmann-Faw'e syndrome: a case series[J]. Korean J Ophthahnol, 2012, 26(2): 143-146. DOI: 10. 3341/kjo. 2012.26.2. 143.
  • 3Theodossiadis PG, Koutsandrea C, Kollia AC, et al. Optical coherence tomography in the study of the Goldmann-Favre syndronle [J]. Am J Ophlhahnol, 2000, 129(4): 542- 544.
  • 4Pachydaki SI, Klaver CC, Barbazetto IA, et al. Phenolypic features of patients with NR2E3 mutations[J]. Arch Ophthalmol, 2009, 127(1): 71-75.
  • 5Peyman GA, Fishman GA, Sanders DR, et al. Histopathology of Goldmann-Favre syndrome obtained by full-thickness eye- wall biopsy[J]. Ann Ophthalmol, 1977, 9(4): 479-484.
  • 6Udar N, Small K, Chalukya M, et al. Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome[J]. Mol Vis, 2011, 17: 519-525.
  • 7Sharon D, Sandberg MA, Caruso RC, et al. Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration[J]. Arch Ophthalmol, 2003, 121(9): 1316-1323.
  • 8Marmor MF. A teenager with nightblindness and cysticmaculopathy: enhanced S cone syndrome(Goldmann-Favre syndrome)[J]. Doc Ophthalmol, 2006, 113(3): 213-215.
  • 9Sidiki SS, Hamilton R, Dutton G N. Fear of the dark in children: is stationary night blindness the cause[J]. BMJ, 2003, 326(7382): 211-212.
  • 10Guo DF, Rahmouni K. Molecular basis of the obesity associated with Bardet-Biedl syndrome[J]. Trends Endocrinol Metab, 2011, 22(7): 286-293. DOI: 10. 1016/j. tem. 2011.02. 009.

引证文献3

二级引证文献2

中华眼科杂志
2008年 第9期

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