视网膜母细胞瘤合并肝豆状核变性患儿一例_Chinese Journal of Ocular Fundus Diseases

Authors：

邹弋华 ,  季迅达 , 李家恺 , 彭婕 , 赵培泉

上海交通大学医学院附属新华医院眼科 200092;

Corresponding author：

季迅达, Email: jixunda@xinhuamed.com.cn

Keywords：

视网膜母细胞瘤; 肝豆状核变性; 病例报告

DOI：

10.3760/cma.j.cn511434-20210506-00231

Video：

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Citation： 邹弋华, 季迅达, 李家恺, 彭婕, 赵培泉. 视网膜母细胞瘤合并肝豆状核变性患儿一例. Chinese Journal of Ocular Fundus Diseases, 2021, 37(12): 960-961. doi: 10.3760/cma.j.cn511434-20210506-00231 Copy

1.	Kirchhoff M, Bisgaard AM, Stoeva R, et al. Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter[J]. Am J Med Genet A, 2009, 149A(5): 894-905. DOI: 10.1002/ajmg.a.32814.
2.	Dunn LL, Annable WL, Kliegman RM. Pigmented corneal rings in neonates with liver disease[J]. J Pediatr, 1987, 110(5): 771-776. DOI: 10.1016/s0022-3476(87)80022-7.
3.	Sánchez-Monteagudo A, Ripollés E, Berenguer M, et al. Wilson's disease: facing the challenge of diagnosing a rare disease[J]. Biomedicines, 2021, 9(9): 1100. DOI: 10.3390/biomedicines9091100.
4.	Gudiseva HV, Berry JL, Polski A, et al. Next-generation technologies and strategies for the management of retinoblastoma[J]. Genes (Basal), 2019, 10(12): 1032. DOI: 10.3390/genes10121032.
5.	Riley D, Wiznitzer M, Schwartz S, et al. A 13-year-old boy with cognitive impairment, retinoblastoma, and Wilson disease[J]. Neurology, 2001, 57(1): 141-143. DOI: 10.1212/wnl.57.1.141.
6.	中华医学会眼科学分会眼底病学组. 中国视网膜母细胞瘤诊断和治疗指南(2019年)[J]. 中华眼科杂志, 2019, 55(10): 726-738. DOI: 10.3760/cma.j.issn.0412-4081.2019.10.003.Branch of Chinese Medical Association of Fundus Disease Group of Ophthalmology. Guidelines for Diagnosis and Treatment of Retinoblastoma in China (2019)[J]. Chin J Ophthalmol, 2019, 55(10): 726-738. DOI: 10.3760/cma.j.issn.0412-4081.2019.10.003.
7.	梁建宏, 朱雪梅. 规范开展视网膜母细胞瘤的基因检测[J]. 中华眼科杂志, 2019, 55(11): 806-810. DOI: 10.3760/cma.j.issn.0412-4081.2019.11.003.Liang JH, Zhu XM. Promoting regulated gene diagnosis for retinoblastoma in clinical work[J]. Chin J Ophthalmol, 2019, 55(11): 806-810. DOI: 10.3760/cma.j.issn.0412-4081.2019.11.003.

1. Kirchhoff M, Bisgaard AM, Stoeva R, et al. Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter[J]. Am J Med Genet A, 2009, 149A(5): 894-905. DOI: 10.1002/ajmg.a.32814.
2. Dunn LL, Annable WL, Kliegman RM. Pigmented corneal rings in neonates with liver disease[J]. J Pediatr, 1987, 110(5): 771-776. DOI: 10.1016/s0022-3476(87)80022-7.
3. Sánchez-Monteagudo A, Ripollés E, Berenguer M, et al. Wilson's disease: facing the challenge of diagnosing a rare disease[J]. Biomedicines, 2021, 9(9): 1100. DOI: 10.3390/biomedicines9091100.
4. Gudiseva HV, Berry JL, Polski A, et al. Next-generation technologies and strategies for the management of retinoblastoma[J]. Genes (Basal), 2019, 10(12): 1032. DOI: 10.3390/genes10121032.
5. Riley D, Wiznitzer M, Schwartz S, et al. A 13-year-old boy with cognitive impairment, retinoblastoma, and Wilson disease[J]. Neurology, 2001, 57(1): 141-143. DOI: 10.1212/wnl.57.1.141.
6. 中华医学会眼科学分会眼底病学组. 中国视网膜母细胞瘤诊断和治疗指南(2019年)[J]. 中华眼科杂志, 2019, 55(10): 726-738. DOI: 10.3760/cma.j.issn.0412-4081.2019.10.003.Branch of Chinese Medical Association of Fundus Disease Group of Ophthalmology. Guidelines for Diagnosis and Treatment of Retinoblastoma in China (2019)[J]. Chin J Ophthalmol, 2019, 55(10): 726-738. DOI: 10.3760/cma.j.issn.0412-4081.2019.10.003.
7. 梁建宏, 朱雪梅. 规范开展视网膜母细胞瘤的基因检测[J]. 中华眼科杂志, 2019, 55(11): 806-810. DOI: 10.3760/cma.j.issn.0412-4081.2019.11.003.Liang JH, Zhu XM. Promoting regulated gene diagnosis for retinoblastoma in clinical work[J]. Chin J Ophthalmol, 2019, 55(11): 806-810. DOI: 10.3760/cma.j.issn.0412-4081.2019.11.003.

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视网膜母细胞瘤合并肝豆状核变性患儿一例

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