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中华眼科医学杂志(电子版) ›› 2017, Vol. 07 ›› Issue (02) : 84 -87. doi: 10.3877/cma.j.issn.2095-2007.2017.02.006

所属专题: 经典病例 经典病例 文献

病例报告

完全型先天性静止性夜盲一例
侯金佟1, 马红婕1, 张静琳1, 梁炯基1, 高汝龙1, 林晓梅1, 吴德正1,()   
  1. 1. 510095 广东省广州爱尔眼科医院眼底病专科
  • 收稿日期:2017-03-21 出版日期:2017-04-28
  • 通信作者: 吴德正
  • 基金资助:
    国家自然科学基金(81500749)

Congenital stationary night blindness: one case report

Jintong Hou1, Hongjie Ma1, Jinglin Zhang1   

  • Received:2017-03-21 Published:2017-04-28
引用本文:

侯金佟, 马红婕, 张静琳, 梁炯基, 高汝龙, 林晓梅, 吴德正. 完全型先天性静止性夜盲一例[J]. 中华眼科医学杂志(电子版), 2017, 07(02): 84-87.

Jintong Hou, Hongjie Ma, Jinglin Zhang. Congenital stationary night blindness: one case report[J]. Chinese Journal of Ophthalmologic Medicine(Electronic Edition), 2017, 07(02): 84-87.

图1 先天性静止性夜盲患者双眼眼底彩色图像 A图示右眼,B图示左眼,双眼视乳头边界清楚,动、静脉走行正常,视网膜未见明显色素沉着
图2 先天性静止性夜盲患者双眼光学相干断层扫描图 A 图和B图示右眼,C图和D图示左眼,双眼视网膜各层结构未见明显异常,黄斑区鼻侧脉络膜变薄
图3 先天性静止性夜盲患者双眼与正常对照眼的全视野视网膜电图 OD 示右眼,OS示左眼,N示正常对照眼。A图示暗适应视杆细胞反应;B图示暗适应3.0混合反应;C图示暗适应10.0混合反应;D图示暗适应3.0震荡电位;E图示明适应3.0视锥细胞反应;F示明适应30 Hz闪烁光反应。患者双眼暗适应视杆细胞反应平坦。双眼暗适应3.0混合反应的a波潜伏期延迟,振幅正常;b波潜伏期正常,振幅重度下降。双眼暗适应3.0震荡电位记录不到波。双眼明适应3.0视锥细胞反应的a波潜伏期正常,波谷变宽,右眼振幅中度下降,左眼振幅正常;双眼b波的潜伏期延迟,振幅下降。双眼明适应30 Hz闪烁光反应的b波振幅下降
[1]
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.
[2]
Boycott KM, Pearce WG, Bech-Hansen NT. Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F[J]. Can J Ophthalmol, 2000, 35(4):204-213.
[3]
Zeitz C, Robson AG, Audo I. Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms[J]. Prog Retin Eye Res, 2015, 45:58-110.
[4]
Haim M. Congenital stationary night blindness[J]. Acta Ophthalmol (Copenh), 1986, 64(2):192-198.
[5]
Al-Jandal N, Farrar GJ, Kiang AS, et al. A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness[J]. Hum Mutat, 1999, 13(1):75-81.
[6]
Neuillé M, Malaichamy S, Vadalà M, et al. Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness[J]. Clin Genet, 2016, 89(6):690-699.
[7]
Vincent A, Audo I, Tavares E, et al. Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness[J]. Am J Hum Genet, 2016, 98(5):1011-1019.
[8]
BechHansen NT, Naylor MJ, Maybaum TA, al. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness[J]. Nat Genet, 1998, 19(3):264-267.
[9]
Rosenberg T, Haim M, Piczenik Y, et al. Autosomal dominant stationary night-blindness: A large family rediscovered[J]. Acta Ophthalmol (Copenh), 1991, 69(6):694-702.
[10]
Szabo V, Kreienkamp HJ, Rosenberg T, et al. p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness[J]. Hum Mutat, 2007, 28(7):741-742.
[11]
Naeem MA, Chavali VR, Ali S, et al. GNAT1 associated with autosomal recessive congenital stationary night blindness[J]. Invest Ophthalmol Vis Sci, 2012, 53(3):1353-1361.
[12]
Riggs LA. Electroretinography in cases of night blindness[J]. Am J Ophthalmol, 1954, 38(1):70-78.
[13]
Schubert G, Bornschein H. Analysis of the human electroretinogram[J]. Ophthalmologica, 1952, 123(6):396-413.
[14]
Miyake Y, Yagasaki K, Horiguchi M, et al. Congenital stationary night blindness with negative electroretinogram: A new classification[J]. Arch Ophthalmol, 1986, 104(7):1013-1020.
[15]
Miyake Y. Establishment of the concept of new clinical entities-complete and incomplete form of congenital stationary night blindness[J]. Nippon Ganka Gakkai Zasshi, 2002, 106(12):737-756.
[16]
Bech-Hansen NT, Naylor MJ, Maybaum TA, et al. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness[J]. Nat Genet, 2000, 26(3):319-323.
[17]
Dryja TP, McGee TL, Berson EL, et al. Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6[J]. Proc Natl Acad Sci USA, 2005, 102(13):4884-4889.
[18]
Audo I, Kohl S, Leroy BP, et al. TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness[J]. Am J Hum Genet, 2009, 85(5):720-729.
[19]
Audo I, Bujakowska K, Orhan E, et al. Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness[J]. Am J Hum Genet, 2012, 90(2):321-330.
[20]
Zeitz C, Jacobson SG, Hamel CP, et al. Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness[J]. Am J Hum Genet, 2013, 92(1):67-75.
[21]
Bijveld MM, Florijn RJ, Bergen AA, et al. Genotype and phenotype of 101 dutch patients with congenital stationary night blindness[J]. Ophthalmology, 2013, 120(10):2072-2081.
[22]
Westall CA, Dhaliwal HS, Panton CM, et al. Values of electroretinogram responses according to axial length[J]. Doc Ophthalmol, 2001, 102(2):115-130.
[23]
Bech-Hansen NT, Naylor MJ, Maybaum TA, et al. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness[J]. Nat Genet, 1998, 19(3):264-267.
[24]
Zeitz C, Kloeckener-Gruissem B, Forster U, et al. Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness[J]. Am J Hum Genet, 2006, 79(4):657-667.
[25]
Wycisk KA, Zeitz C, Feil S, et al. Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy[J]. Am J Hum Genet, 2006, 79(5):973-977.
[26]
Miyake Y. Electrodiagnosis of Retinal Diseases[M]. Tokyo: Springer, 2006: 94.
[27]
Marr JE, Halliwell-Ewen J, Fisher B, et al. Associations of high myopia in childhood[J]. Eye (Lond), 2001, 15(1):70-74.
[28]
Logan NS, Gilmartin B, Marr JE, et al. Community-based study of the association of high myopia in children with ocular and systemic disease[J]. Optom Vis Sci, 2004, 81(1):11-13.
[29]
Miyake Y. X-linked congenital stationary night blindness[J]. Arch Ophthalmol, 1989, 107(5):635-636.
[30]
Zhou L, Li T, Xing YQ, et al. Novel TRPM1 mutations in two Chinese families with early-onset high myopia, with or without complete congenital stationary night blindness[J]. Int J Ophthalmol, 2016, 9(10):1396-1402.
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