視網膜色素變性合并不同并發癥2例_Chinese Journal of Ocular Fundus Diseases

Authors：

徐華 , 張榮 , 程湧 ,  梁建宏

北京大學人民醫院眼科眼視光中心眼病與視光醫學研究所視網膜脈絡膜診治研究北京市重點實驗室北京大學醫學部眼視光學院, 北京 100044;
徐華, 現在蘇州大學附屬兒童醫院眼科;

Corresponding?author：

梁建宏, Email: drliangjianhong@126.com

Keywords：

色素性視網膜炎; 脈絡膜新生血管化; Coats樣滲出性玻璃體視網膜病變; 病例報告

DOI：

10.3760/cma.j.cn511434-20211028-00610

Video：

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Citation： 徐華, 張榮, 程湧, 梁建宏. 視網膜色素變性合并不同并發癥2例. Chinese Journal of Ocular Fundus Diseases, 2022, 38(11): 931-933. doi: 10.3760/cma.j.cn511434-20211028-00610 Copy

1.	Yang C, Georgiou M, Atkinson R, et al. Pre-mrna processing factors and retinitis pigmentosa: RNA splicing and beyond[J/OL]. Front Cell Dev Biol, 2021, 9: 700276[2021-07-28]. https://pubmed.ncbi.nlm.nih.gov/34395430/. DOI: 10.3389/fcell.2021.700276.
2.	Chakarova CF, Hims MM, Bolz H, et al. Mutations in HPRP3, a third member of pre-mrna splicing factor genes, implicated in autosomal dominant retinitis pigmentosa[J]. Hum Mol Genet, 2002, 11(1): 87-92. DOI: 10.1093/hmg/11.1.87.
3.	Comitato A, Spampanato C, Chakarova C, et al. Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells[J]. Hum Mol Genet, 2007, 16(14): 1699-1707. DOI: 10.1093/hmg/ddm118.
4.	Graziotto JJ, Inglehearn CF, Pack MA, et al. Decreased levels of the rna splicing factor PRPF3 in mice and zebrafish do not cause photoreceptor degeneration[J]. Invest Ophthalmol Vis Sci, 2008, 49(9): 3830-3838. DOI: 10.1167/iovs.07-1483.
5.	Farkas MH, Lew DS, Sousa ME, et al. Mutations in pre-mrna processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium[J]. Am J Pathol, 2014, 184(10): 2641-2652. DOI: 10.1016/j.ajpath.2014.06.026.
6.	Verbakel SK, van Huet RAC, Boon CJF, et al. Non-syndromic retinitis pigmentosa[J]. Prog Retin Eye Res, 2018, 66: 157-186. DOI: 10.1016/j.preteyeres.2018.03.005.
7.	Moinuddin O, Sathrasala S, Jayasundera KT, et al. Coats-like exudative vitreoretinopathy in retinitis pigmentosa: ocular manifestations and treatment outcomes[J]. Ophthalmol Retina, 2021, 5(1): 86-96. DOI: 10.1016/j.oret.2020.03.026.
8.	Testa F, Rossi S, Colucci R, et al. Macular abnormalities in italian patients with retinitis pigmentosa[J]. Br J Ophthalmol, 2014, 98(7): 946-950. DOI: 10.1136/bjophthalmol-2013-304082.
9.	湯悠, 張美霞. 結晶樣視網膜色素變性合并黃斑區脈絡膜新生血管一例[J]. 中華眼底病雜志, 2018, 34(6): 594-595. DOI: 10.3760/cma.j.issn.1005-1015.2018.06.014.Tang Y, Zhang MX. Crystalline retinitis pigmentosa complicated with choroidal neovascularization in the macular region: a case report[J]. Chin J Ocul Fundus Dis, 2018, 34(6): 594-595. DOI: 10.3760/cma.j.issn.1005-1015.2018.06.014.
10.	Falfoul Y, Matri KE, Habibi I, et al. OCT-angiography assessing quiescent and active choroidal neovascularization in retinitis pigmentosa associated with prph2 pathogenic variant[J]. Eur J Ophthalmol, 2022, 32(4): 98-102. DOI: 10.1177/11206721211004396.
11.	Marano F, Deutman AF, Leys A, et al. Hereditary retinal dystrophies and choroidal neovascularization[J]. Graefe's Arch Clin Exp Ophthalmol, 2000, 238(9): 760-764. DOI: 10.1007/s004170000186.

1. Yang C, Georgiou M, Atkinson R, et al. Pre-mrna processing factors and retinitis pigmentosa: RNA splicing and beyond[J/OL]. Front Cell Dev Biol, 2021, 9: 700276[2021-07-28]. https://pubmed.ncbi.nlm.nih.gov/34395430/. DOI: 10.3389/fcell.2021.700276.
2. Chakarova CF, Hims MM, Bolz H, et al. Mutations in HPRP3, a third member of pre-mrna splicing factor genes, implicated in autosomal dominant retinitis pigmentosa[J]. Hum Mol Genet, 2002, 11(1): 87-92. DOI: 10.1093/hmg/11.1.87.
3. Comitato A, Spampanato C, Chakarova C, et al. Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells[J]. Hum Mol Genet, 2007, 16(14): 1699-1707. DOI: 10.1093/hmg/ddm118.
4. Graziotto JJ, Inglehearn CF, Pack MA, et al. Decreased levels of the rna splicing factor PRPF3 in mice and zebrafish do not cause photoreceptor degeneration[J]. Invest Ophthalmol Vis Sci, 2008, 49(9): 3830-3838. DOI: 10.1167/iovs.07-1483.
5. Farkas MH, Lew DS, Sousa ME, et al. Mutations in pre-mrna processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium[J]. Am J Pathol, 2014, 184(10): 2641-2652. DOI: 10.1016/j.ajpath.2014.06.026.
6. Verbakel SK, van Huet RAC, Boon CJF, et al. Non-syndromic retinitis pigmentosa[J]. Prog Retin Eye Res, 2018, 66: 157-186. DOI: 10.1016/j.preteyeres.2018.03.005.
7. Moinuddin O, Sathrasala S, Jayasundera KT, et al. Coats-like exudative vitreoretinopathy in retinitis pigmentosa: ocular manifestations and treatment outcomes[J]. Ophthalmol Retina, 2021, 5(1): 86-96. DOI: 10.1016/j.oret.2020.03.026.
8. Testa F, Rossi S, Colucci R, et al. Macular abnormalities in italian patients with retinitis pigmentosa[J]. Br J Ophthalmol, 2014, 98(7): 946-950. DOI: 10.1136/bjophthalmol-2013-304082.
9. 湯悠, 張美霞. 結晶樣視網膜色素變性合并黃斑區脈絡膜新生血管一例[J]. 中華眼底病雜志, 2018, 34(6): 594-595. DOI: 10.3760/cma.j.issn.1005-1015.2018.06.014.Tang Y, Zhang MX. Crystalline retinitis pigmentosa complicated with choroidal neovascularization in the macular region: a case report[J]. Chin J Ocul Fundus Dis, 2018, 34(6): 594-595. DOI: 10.3760/cma.j.issn.1005-1015.2018.06.014.
10. Falfoul Y, Matri KE, Habibi I, et al. OCT-angiography assessing quiescent and active choroidal neovascularization in retinitis pigmentosa associated with prph2 pathogenic variant[J]. Eur J Ophthalmol, 2022, 32(4): 98-102. DOI: 10.1177/11206721211004396.
11. Marano F, Deutman AF, Leys A, et al. Hereditary retinal dystrophies and choroidal neovascularization[J]. Graefe's Arch Clin Exp Ophthalmol, 2000, 238(9): 760-764. DOI: 10.1007/s004170000186.

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Chinese Journal of Ocular Fundus Diseases

視網膜色素變性合并不同并發癥2例

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