先天性視網膜劈裂伴水尾現象1例_Chinese Journal of Ocular Fundus Diseases

Authors：

李志林 ^1,2 , 周露宇 ¹ , 文娟 ^1,2,3 , 劉小虎 ² , 陳蓉 ⁴ ,  段俊國 ^1,2,3

1. ;
2. ;
3. ;
4. ;

Corresponding?author：

段俊國, Email: duanjg@cdutcm.edu.cn

Keywords：

視網膜霹裂; 水尾現象; 夜盲; 基因檢測; 病例報告

DOI：

10.3760/cma.j.cn511434-20240227-00082

Video：

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Citation： 李志林, 周露宇, 文娟, 劉小虎, 陳蓉, 段俊國. 先天性視網膜劈裂伴水尾現象1例. Chinese Journal of Ocular Fundus Diseases, 2024, 40(8): 640-641. doi: 10.3760/cma.j.cn511434-20240227-00082 Copy

1.	Molday RS, Kellner U, Weber BH. X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms[J]. Prog Retin Eye Res, 2012, 31(3): 195-212. DOI: 10.1016/j.preteyeres.2011.12.002.
2.	Takada Y, Fariss R, Muler M, et al. Retinoschisin expression and localization in rodent and human pineal and consequences of mouse RS1 gene knockout[J]. Mol Vis, 2006, 12: 1108-1116.
3.	Hunter DD, Shah V, Merlie JP, et al. A laminin-like adhesive protein concentrated in the synaptic cleft of the neuromuscular junction[J]. Nature, 1989, 338(6212): 229-234. DOI: 10.1038/338229a0.
4.	Wakabayashi K, Sakai-Wakabayashi Y, Ishigami C. Mizuo-nakamura phenomenon in X-linked retinoschisis[J/OL]. Am J Ophthalmol Case Rep, 2022, 26: 101529[2022-04-10]. https://pubmed.ncbi.nlm.nih.gov/35479517/. DOI: 10.1016/j.ajoc.2022.101529.
5.	Pellegrini F, Gonzalez M, Alvarado A. Mizuo-nakamura phenomenon in a middle-aged woman[J/OL]. JAMA Ophthalmol, 2018, 136(9): e182640[2018-09-01]. https://pubmed.ncbi.nlm.nih.gov/30242369/. DOI: 10.1001/jamaophthalmol.2018.2640.
6.	Shanmugam P, Mohankumar A, Mohan S, et al. Oguchi's disease-clinical image[J]. Oman J Ophthalmol, 2023, 16(3): 567-569. DOI: 10.4103/ojo.ojo_220_22.
7.	Vincent A, Shetty R, Yadav NK, et al. Foveal schisis with Mizuo phenomenon: etio-pathogenesis of tapetal reflex in X-linked retinoschisis[J]. Eye (Lond), 2009, 23(5): 1240-1241. DOI: 10.1038/eye.2008.170.
8.	Bergsma DR Jr, Chen CJ. The Mizuophenomenon in oguchi disease[J]. Arch Ophthalmol, 1997, 115(4): 560-561. DOI: 10.1001/archopht.1997.01100150562027.
9.	de Jong PT, Zrenner E, van Meel GJ, et al. Mizuo phenomenon in X-linked retinoschisis. Pathogenesis of the Mizuo phenomenon[J]. Arch Ophthalmol, 1991, 109(8): 1104-1108. DOI: 10.1001/archopht.1991.01080080064029.
10.	羅萍, 劉艷秋, 邢雪莎, 等. X連鎖先天性視網膜劈裂癥家系的RS1基因變異分析[J]. 中華醫學遺傳學雜志, 2022, 39(4): 378-382. DOI: 10.3760/cma.j.cn511374-20200729-00566.Luo P, Liu YQ, Xing XS, et al. Analysis of RS1 gene variant in a Chinese pedigree affected with X-linked congenital retinal splitters[J]. Chin J Med Genet, 2022, 39(4): 378-382. DOI: 10.3760/cma.j.cn511374-20200729-00566.

1. Molday RS, Kellner U, Weber BH. X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms[J]. Prog Retin Eye Res, 2012, 31(3): 195-212. DOI: 10.1016/j.preteyeres.2011.12.002.
2. Takada Y, Fariss R, Muler M, et al. Retinoschisin expression and localization in rodent and human pineal and consequences of mouse RS1 gene knockout[J]. Mol Vis, 2006, 12: 1108-1116.
3. Hunter DD, Shah V, Merlie JP, et al. A laminin-like adhesive protein concentrated in the synaptic cleft of the neuromuscular junction[J]. Nature, 1989, 338(6212): 229-234. DOI: 10.1038/338229a0.
4. Wakabayashi K, Sakai-Wakabayashi Y, Ishigami C. Mizuo-nakamura phenomenon in X-linked retinoschisis[J/OL]. Am J Ophthalmol Case Rep, 2022, 26: 101529[2022-04-10]. https://pubmed.ncbi.nlm.nih.gov/35479517/. DOI: 10.1016/j.ajoc.2022.101529.
5. Pellegrini F, Gonzalez M, Alvarado A. Mizuo-nakamura phenomenon in a middle-aged woman[J/OL]. JAMA Ophthalmol, 2018, 136(9): e182640[2018-09-01]. https://pubmed.ncbi.nlm.nih.gov/30242369/. DOI: 10.1001/jamaophthalmol.2018.2640.
6. Shanmugam P, Mohankumar A, Mohan S, et al. Oguchi's disease-clinical image[J]. Oman J Ophthalmol, 2023, 16(3): 567-569. DOI: 10.4103/ojo.ojo_220_22.
7. Vincent A, Shetty R, Yadav NK, et al. Foveal schisis with Mizuo phenomenon: etio-pathogenesis of tapetal reflex in X-linked retinoschisis[J]. Eye (Lond), 2009, 23(5): 1240-1241. DOI: 10.1038/eye.2008.170.
8. Bergsma DR Jr, Chen CJ. The Mizuophenomenon in oguchi disease[J]. Arch Ophthalmol, 1997, 115(4): 560-561. DOI: 10.1001/archopht.1997.01100150562027.
9. de Jong PT, Zrenner E, van Meel GJ, et al. Mizuo phenomenon in X-linked retinoschisis. Pathogenesis of the Mizuo phenomenon[J]. Arch Ophthalmol, 1991, 109(8): 1104-1108. DOI: 10.1001/archopht.1991.01080080064029.
10. 羅萍, 劉艷秋, 邢雪莎, 等. X連鎖先天性視網膜劈裂癥家系的RS1基因變異分析[J]. 中華醫學遺傳學雜志, 2022, 39(4): 378-382. DOI: 10.3760/cma.j.cn511374-20200729-00566.Luo P, Liu YQ, Xing XS, et al. Analysis of RS1 gene variant in a Chinese pedigree affected with X-linked congenital retinal splitters[J]. Chin J Med Genet, 2022, 39(4): 378-382. DOI: 10.3760/cma.j.cn511374-20200729-00566.

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Chinese Journal of Ocular Fundus Diseases

先天性視網膜劈裂伴水尾現象1例

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