<i>PDE6b</i>基因变异致迟发性常染色体隐性遗传色素性视网膜炎1例_Chinese Journal of Ocular Fundus Diseases

Authors：

 胡玉章

成都爱迪眼科医院, 成都 610072;

Corresponding author：

胡玉章, Email: rsn2008@sina.com

Keywords：

色素性视网膜炎; PDE6B基因; 脉络膜营养不良; 基因突变; 病例报告

DOI：

10.3760/cma.j.cn511434-20240605-00221

Video：

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1.	Gregory-Evans K, Pennesi ME, Weleber RG. Retinitis pigmentosa and allied disorders[M]//Ryan SJ. Retina. Retina degenerations and dystrophies. 5th ed. Amsterdam: Elsevier, 2013: 761-766.
2.	Mclaughlin ME, Sandberg MA, Berson EL, et al. Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa[J]. Nat Genet, 1993, 4(2): 130-134. DOI: 10.1038/ng0693-130.
3.	袁莉, 刘焰, 刘特. 磷酸二酯酶6b基因异常表达对视网膜色素变性的作用[J]. 中国临床医学, 2017, 24(3): 455-460. DOI: 10.12025/j.issn.1008-6358.2017.20161014.Yuan L, Liu Y, Liu T. Effect of abnormal expression of phosphodiesterase 6b gene on retinitis pigmentosa[J]. Chinese Journal of Clinical Medicine, 2017, 24(3): 455-460. DOI: 10.12025/j.issn.1008-6358.2017.20161014.
4.	崔云, 王立, 赵堪兴, 等. 视网膜色素变性隐性遗传致病基因PDE6B的突变分析[J]. 中华医学遗传学杂志, 2003, 20(3): 200-202. DOI: 10.3760/j.issn:1003-9406.2003.03.007.Cui Y, Wang L, Zhao KX, et al. Mutation analysis of recessive pathogenic gene PDE6B in retinitis pigmentosa[J]. Chin J Med Genet, 2003, 20(3): 200-202. DOI: 10.3760/j.issn:1003-9406.2003.03.007.
5.	崔云, 赵堪兴, 王立, 等. 视网膜色素变性患者的相关致病基因PDE6B突变及其临床表型分析[J]. 中华眼科杂志, 2003, 39(1): 28-32. DOI: 10.3760/j:issn:0412-4081.2003.01.008.Cui Y, Zhao KX, Wang L, et al. A study of PDE6B gene mutation and phenotype in Chinese cases with retinitis pigmentosa[J]. Chin J Ophthalmol, 2003, 39(1): 28-32. DOI: 10.3760/j:issn:0412-4081.2003.01.008.
6.	Young AI, Benonisdottir S, Przeworski M, et al. Deconstructing the sources of genotype-phenotype associations in humans[J]. Science, 2019, 365(6460): 1396-1400. DOI: 10.1126/science.aax3710.
7.	Chen RW, Greenberg JP, Lazow MA, et al. Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa[J]. Am J Ophthalmol, 2012, 153(1): 143-154. DOI: 10.1016/j.ajo.2011.06.018.
8.	Yannuzzi LA. Choroidal dystrophies[M]//Yannuzzi LA. The Retina Atlas. 2nd ed. Amsterdam: Elsevier, 2010: 80-86.
9.	虎学君, 李贞, 牛伟, 等. CDHR1和C2orf71基因新变异相关的视锥视杆细胞营养不良[J]. 中华眼底病杂志, 2022, 38(8): 656-662. DOI: 10.3760/cma.j.cn511434-20211213-00695.Hu XJ , Li Z, Niu W, et al. Cone-rod dystrophy associated with novel variations on CDHR1 and C2orf71 gene[J]. Chin J Ocul Fundus Dis, 2022, 38(8): 656-662. DOI: 10.3760/cma.j.cn511434-20211213-00695.

1. Gregory-Evans K, Pennesi ME, Weleber RG. Retinitis pigmentosa and allied disorders[M]//Ryan SJ. Retina. Retina degenerations and dystrophies. 5th ed. Amsterdam: Elsevier, 2013: 761-766.
2. Mclaughlin ME, Sandberg MA, Berson EL, et al. Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa[J]. Nat Genet, 1993, 4(2): 130-134. DOI: 10.1038/ng0693-130.
3. 袁莉, 刘焰, 刘特. 磷酸二酯酶6b基因异常表达对视网膜色素变性的作用[J]. 中国临床医学, 2017, 24(3): 455-460. DOI: 10.12025/j.issn.1008-6358.2017.20161014.Yuan L, Liu Y, Liu T. Effect of abnormal expression of phosphodiesterase 6b gene on retinitis pigmentosa[J]. Chinese Journal of Clinical Medicine, 2017, 24(3): 455-460. DOI: 10.12025/j.issn.1008-6358.2017.20161014.
4. 崔云, 王立, 赵堪兴, 等. 视网膜色素变性隐性遗传致病基因PDE6B的突变分析[J]. 中华医学遗传学杂志, 2003, 20(3): 200-202. DOI: 10.3760/j.issn:1003-9406.2003.03.007.Cui Y, Wang L, Zhao KX, et al. Mutation analysis of recessive pathogenic gene PDE6B in retinitis pigmentosa[J]. Chin J Med Genet, 2003, 20(3): 200-202. DOI: 10.3760/j.issn:1003-9406.2003.03.007.
5. 崔云, 赵堪兴, 王立, 等. 视网膜色素变性患者的相关致病基因PDE6B突变及其临床表型分析[J]. 中华眼科杂志, 2003, 39(1): 28-32. DOI: 10.3760/j:issn:0412-4081.2003.01.008.Cui Y, Zhao KX, Wang L, et al. A study of PDE6B gene mutation and phenotype in Chinese cases with retinitis pigmentosa[J]. Chin J Ophthalmol, 2003, 39(1): 28-32. DOI: 10.3760/j:issn:0412-4081.2003.01.008.
6. Young AI, Benonisdottir S, Przeworski M, et al. Deconstructing the sources of genotype-phenotype associations in humans[J]. Science, 2019, 365(6460): 1396-1400. DOI: 10.1126/science.aax3710.
7. Chen RW, Greenberg JP, Lazow MA, et al. Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa[J]. Am J Ophthalmol, 2012, 153(1): 143-154. DOI: 10.1016/j.ajo.2011.06.018.
8. Yannuzzi LA. Choroidal dystrophies[M]//Yannuzzi LA. The Retina Atlas. 2nd ed. Amsterdam: Elsevier, 2010: 80-86.
9. 虎学君, 李贞, 牛伟, 等. CDHR1和C2orf71基因新变异相关的视锥视杆细胞营养不良[J]. 中华眼底病杂志, 2022, 38(8): 656-662. DOI: 10.3760/cma.j.cn511434-20211213-00695.Hu XJ , Li Z, Niu W, et al. Cone-rod dystrophy associated with novel variations on CDHR1 and C2orf71 gene[J]. Chin J Ocul Fundus Dis, 2022, 38(8): 656-662. DOI: 10.3760/cma.j.cn511434-20211213-00695.

Chinese Journal of Ocular Fundus Diseases

Latest ArticlesPDE6b基因变异致迟发性常染色体隐性遗传色素性视网膜炎1例

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