RP1L1基因突变所致黄斑营养不良一例_Chinese Journal of Ocular Fundus Diseases

Authors：

 陈巍 ¹ , 刘敬花 ² , 毛羽 ³ , 彭晓燕 ³

1. ;
2. ;
3. ;

Corresponding author：

陈巍, Email: chenweidgj@163.com

Keywords：

视网膜营养不良/诊断; 眼疾病; 遗传性; 基因; 突变; 病例报告

DOI：

10.3760/cma.j.cn511434-20181204-00415

Video：

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Citation： 陈巍, 刘敬花, 毛羽, 彭晓燕. RP1L1基因突变所致黄斑营养不良一例. Chinese Journal of Ocular Fundus Diseases, 2020, 36(3): 229-231. doi: 10.3760/cma.j.cn511434-20181204-00415 Copy

1.	Querques G, Zerbib J, Georges A, et al. Multimodal analysis of the progression of Best vitelliform macular dystrophy[J]. Mol Vis, 2014, 20: 575-592.
2.	曹绪胜, 马凯, 纪海霞, 等. 儿童遗传性视网膜疾病的眼底自身荧光表现[J]. 中华眼底病杂志, 2011, 27(4): 335-338. DOI: 10.3760/cma.j.issn.1005-1015.2011.04.008.Cao XS, Ma K, Ji HX, et al. Autofluorescence manifestation in children with hereditary retinal diseases[J]. Chin J Ocul Fundus Dis, 2011, 27(4): 335-338. DOI: 10.3760/cma.j.issn.1005-1015.2011.04.008.
3.	欧阳艳玲, 张勇进, 徐格致, 等. 不同病变时期Best卵黄样黄斑营养不良的光相干断层扫描图像特征[J]. 中华眼底病杂志, 2012, 28(4): 342-345. DOI: 10.3760/cma.j.issn.1005-1015.2012.04.007.Ouyang YL, Zhang YJ, Xu GZ, et a1. Doptical coherence tomography features of Best vitelliform macular dystrophy at different stages[J]. Chin J Ocul Fundus Dis, 2012, 28(4): 342-345. DOI: 10.3760/cma.j.issn.1005-1015.2012.04.007.
4.	Kay DB, Land ME, Cooper RF, et al. Outer retinal structure in best vitelliform macular dystrophy[J]. JAMA Ophthalmol, 2013, 131(9): 1207-1215. DOI: 10.1001/jamaophthalmol.2013.387.
5.	钱海滨, 刘晓玲. Best病的分子遗传学研究进展[J]. 国际眼科纵览, 2011, 35(5): 351-354. DOI: 10.3706/cma.j.issn.1673-5803.2011.05.015.Qiang HB, Liu XL. Progress in molecular genetics of Best disease[J]. Int Rev Ophthalmol, 2011, 35(5): 351-354. DOI: 10.3706/cma.j.issn.1673-5803.2011.05.015.
6.	Fujinami K, Zernant J, Chana RK, et al. Clinical and molecular characteristics of childhood-onset Stargardt disease[J]. Ophthalmology, 2015, 122(2): 326-334. DOI: 10.1016/j.ophtha.2014.08.012.
7.	潘雪梅, 王兴荣, 袁明俊. Stargardt病的荧光素眼底血管造影和光相干断层扫描特征[J]. 山东大学耳鼻喉眼学报, 2008, 22(2): 162-164.Pan XM, Wang XR, Yuan MJ. Fundus angiography with fluorescein and optical coherence tomography in Stargardt’s disease[J]. J Otolaryngol Ophthal Shandong Univ, 2008, 22(2): 162-164.
8.	Duncker T, Marsiglia M, Lee W, et al. Correlations among nearinfrared and short wavelength autofluorescence and spectral-domain optical coherence tomography in recessive Stargardt disease[J]. Invest Ophthalmol Vis Sci, 2014, 55(12): 8134-8143. DOI: 10.1167/iovs.14-14848.
9.	何颖, 戴旭锋, 张华, 等. Stargardt病基因治疗研究现状与进展[J]. 中华眼底病杂志, 2016, 32(2): 224-227. DOI: 10.3760/cma.j.issn.1005-1015.2016.02.029.He Y, Dai XF, Zhang H, et al. The status and progress in gene therapy study of Stargardt disease[J]. Chin J Ocul Fundus Dis, 2016, 32(2): 224-227. DOI: 10.3760/cma.j.issn.1005-1015.2016.02.029.
10.	Bowne SJ, Daiger SP, Malone KA, et al. Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene[J]. Mol Vis, 2008, 9: 129-137.
11.	Kabuto T, Takahashi H, Goto-Fukuura Y, et al. A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms[J]. Mol Vis, 2012, 18: 1031-1039.
12.	Fujinami K, Yang L, Joo K, et al. Clinical and genetic characteristics of East Asian patients with occult macular dystrophy (Miyake disease): East Asia occult macular dystrophy studies report number 1[J]. Ophthalmology, 2019, 126(10): 1432-1444. DOI: 10.1016/j.ophtha.2019.04.032.
13.	Ahn SJ, Cho SI, Ahn J, et al. Clinical and genetic characteristics of Korean occultmacular dystrophy patients[J]. Invest Ophthalmol Vis Sci, 2013, 54(7): 4856-4863. DOI: 10.1167/iovs.13-11643.
14.	Qi YH, Gao FJ, Hu FY, et al. Next-generation sequencing-aided rapid molecular diagnosis of occult macular dystrophy in a Chinese family[J]. Front Genet, 2017, 8: 107. DOI: 10.3389/fgene.2017.00107.
15.	Piermarocchi S, Segato T, Leon A, et al. Occult macular dystrophy in an Italian family carrying a mutation in the RP1L1 gene[J]. Mol Med Rep, 2016, 13(3): 2308-2312. DOI: 10.3892/mmr.2016.4784.
16.	Takahashi H, Hayashi T, Tsuneoka H, et al. Occult macular dystrophy with bilateral chronic subfoveal serous retinal detachment associated with a novel RP1L1mutation (p.S1199P)[J]. Doc Ophthalmol, 2014, 129(1): 49-56. DOI: 10.1007/s10633-014-9443-0.
17.	Kato Y, Hanazono G, Fujinami K, et al. Parafoveal photoreceptor abnormalities in asymptomatic patients with RP1L1 mutations in families with occultmacular dystrophy[J]. Invest Ophthalmol Vis Sci, 2017, 58(14): 6020-6029. DOI: 10.1167/iovs.17-21969.
18.	Chen CJ, Scholl HP, Birch DG, et al. Characterizing the phenotype and genotype of a family with occult macular dystrophy[J]. Arch Ophthalmol, 2012, 130(12): 1554-1559. DOI: 10.1001/archophthalmol.2012.2683.

1. Querques G, Zerbib J, Georges A, et al. Multimodal analysis of the progression of Best vitelliform macular dystrophy[J]. Mol Vis, 2014, 20: 575-592.
2. 曹绪胜, 马凯, 纪海霞, 等. 儿童遗传性视网膜疾病的眼底自身荧光表现[J]. 中华眼底病杂志, 2011, 27(4): 335-338. DOI: 10.3760/cma.j.issn.1005-1015.2011.04.008.Cao XS, Ma K, Ji HX, et al. Autofluorescence manifestation in children with hereditary retinal diseases[J]. Chin J Ocul Fundus Dis, 2011, 27(4): 335-338. DOI: 10.3760/cma.j.issn.1005-1015.2011.04.008.
3. 欧阳艳玲, 张勇进, 徐格致, 等. 不同病变时期Best卵黄样黄斑营养不良的光相干断层扫描图像特征[J]. 中华眼底病杂志, 2012, 28(4): 342-345. DOI: 10.3760/cma.j.issn.1005-1015.2012.04.007.Ouyang YL, Zhang YJ, Xu GZ, et a1. Doptical coherence tomography features of Best vitelliform macular dystrophy at different stages[J]. Chin J Ocul Fundus Dis, 2012, 28(4): 342-345. DOI: 10.3760/cma.j.issn.1005-1015.2012.04.007.
4. Kay DB, Land ME, Cooper RF, et al. Outer retinal structure in best vitelliform macular dystrophy[J]. JAMA Ophthalmol, 2013, 131(9): 1207-1215. DOI: 10.1001/jamaophthalmol.2013.387.
5. 钱海滨, 刘晓玲. Best病的分子遗传学研究进展[J]. 国际眼科纵览, 2011, 35(5): 351-354. DOI: 10.3706/cma.j.issn.1673-5803.2011.05.015.Qiang HB, Liu XL. Progress in molecular genetics of Best disease[J]. Int Rev Ophthalmol, 2011, 35(5): 351-354. DOI: 10.3706/cma.j.issn.1673-5803.2011.05.015.
6. Fujinami K, Zernant J, Chana RK, et al. Clinical and molecular characteristics of childhood-onset Stargardt disease[J]. Ophthalmology, 2015, 122(2): 326-334. DOI: 10.1016/j.ophtha.2014.08.012.
7. 潘雪梅, 王兴荣, 袁明俊. Stargardt病的荧光素眼底血管造影和光相干断层扫描特征[J]. 山东大学耳鼻喉眼学报, 2008, 22(2): 162-164.Pan XM, Wang XR, Yuan MJ. Fundus angiography with fluorescein and optical coherence tomography in Stargardt’s disease[J]. J Otolaryngol Ophthal Shandong Univ, 2008, 22(2): 162-164.
8. Duncker T, Marsiglia M, Lee W, et al. Correlations among nearinfrared and short wavelength autofluorescence and spectral-domain optical coherence tomography in recessive Stargardt disease[J]. Invest Ophthalmol Vis Sci, 2014, 55(12): 8134-8143. DOI: 10.1167/iovs.14-14848.
9. 何颖, 戴旭锋, 张华, 等. Stargardt病基因治疗研究现状与进展[J]. 中华眼底病杂志, 2016, 32(2): 224-227. DOI: 10.3760/cma.j.issn.1005-1015.2016.02.029.He Y, Dai XF, Zhang H, et al. The status and progress in gene therapy study of Stargardt disease[J]. Chin J Ocul Fundus Dis, 2016, 32(2): 224-227. DOI: 10.3760/cma.j.issn.1005-1015.2016.02.029.
10. Bowne SJ, Daiger SP, Malone KA, et al. Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene[J]. Mol Vis, 2008, 9: 129-137.
11. Kabuto T, Takahashi H, Goto-Fukuura Y, et al. A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms[J]. Mol Vis, 2012, 18: 1031-1039.
12. Fujinami K, Yang L, Joo K, et al. Clinical and genetic characteristics of East Asian patients with occult macular dystrophy (Miyake disease): East Asia occult macular dystrophy studies report number 1[J]. Ophthalmology, 2019, 126(10): 1432-1444. DOI: 10.1016/j.ophtha.2019.04.032.
13. Ahn SJ, Cho SI, Ahn J, et al. Clinical and genetic characteristics of Korean occultmacular dystrophy patients[J]. Invest Ophthalmol Vis Sci, 2013, 54(7): 4856-4863. DOI: 10.1167/iovs.13-11643.
14. Qi YH, Gao FJ, Hu FY, et al. Next-generation sequencing-aided rapid molecular diagnosis of occult macular dystrophy in a Chinese family[J]. Front Genet, 2017, 8: 107. DOI: 10.3389/fgene.2017.00107.
15. Piermarocchi S, Segato T, Leon A, et al. Occult macular dystrophy in an Italian family carrying a mutation in the RP1L1 gene[J]. Mol Med Rep, 2016, 13(3): 2308-2312. DOI: 10.3892/mmr.2016.4784.
16. Takahashi H, Hayashi T, Tsuneoka H, et al. Occult macular dystrophy with bilateral chronic subfoveal serous retinal detachment associated with a novel RP1L1mutation (p.S1199P)[J]. Doc Ophthalmol, 2014, 129(1): 49-56. DOI: 10.1007/s10633-014-9443-0.
17. Kato Y, Hanazono G, Fujinami K, et al. Parafoveal photoreceptor abnormalities in asymptomatic patients with RP1L1 mutations in families with occultmacular dystrophy[J]. Invest Ophthalmol Vis Sci, 2017, 58(14): 6020-6029. DOI: 10.1167/iovs.17-21969.
18. Chen CJ, Scholl HP, Birch DG, et al. Characterizing the phenotype and genotype of a family with occult macular dystrophy[J]. Arch Ophthalmol, 2012, 130(12): 1554-1559. DOI: 10.1001/archophthalmol.2012.2683.

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