首诊于眼科的Cohen综合征1例_Chinese Journal of Ocular Fundus Diseases

Authors：

张磊 , 刘沛洋 ,  王海燕 , 王茹

西安市人民医院（西安市第四医院）陕西省眼科医院西安市眼影像数字化医疗技术重点实验室, 西安 710004;

Corresponding author：

王海燕, Email: whyeye@126.com

Keywords：

Cohen综合征; VPS13B基因突变; 黄斑水肿; 病例报告

DOI：

10.3760/cma.j.cn511434-20220722-00415

Video：

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Citation： 张磊, 刘沛洋, 王海燕, 王茹. 首诊于眼科的Cohen综合征1例. Chinese Journal of Ocular Fundus Diseases, 2024, 40(3): 222-224. doi: 10.3760/cma.j.cn511434-20220722-00415 Copy

1.	Nasser F, Kurtenbach A, Biskup S, et al. Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene[J/OL]. Acta Ophthalmol, 2020, 98(3): e316-e321[2019-10-03]. https://pubmed.ncbi.nlm.nih.gov/31580008/. DOI: 10.1111/aos.14255.
2.	Gabrielle PH, Faivre L, Audo I, et al. Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy[J/OL]. Sci Rep, 2021, 11(1): 16412-16423[2021-08-12]. https://pubmed.ncbi.nlm.nih.gov/34385517/. DOI: 10.1038/s41598-021-95743-8.
3.	Huang LC, Kelly JP, Cabrera MT, et al. Optical coherence tomography findings in Cohen syndrome[J]. J AAPOS, 2020, 24(5): 306-309. DOI: 10.1016/j.jaapos.2020.07.004.
4.	Chandler KE, Biswas S, Lloyd IC, et al. The ophthalmic findings in Cohen syndrome[J]. Br J Ophthalmol, 2002, 86(12): 1395-1398. DOI: 10.1136/bjo.86.12.1395.
5.	Liles CA, Tensmeyer MS, York JM, et al. Cystoid macular edema in a 10-year-old boy with Cohen syndrome[J/OL]. Cureus, 2020, 12(6): e8443-e8449[2020-06-04]. https://pubmed.ncbi.nlm.nih.gov/32642357/. DOI: 10.7759/cureus.8443.
6.	Yang C, Hou M, Li Y, et al. Gene analysis: a rare gene disease of intellectual deficiency-Cohen syndrome[J]. Int J Dev Neurosci, 2018, 68(1): 83-88. DOI: 10.1016/j.ijdevneu.2018.05.004.
7.	Athanasakis E, Fabretto A, Faletra F, et al. Two novel COH1 mutations in an Italian patient with Cohen syndrome[J]. Mol Syndromol, 2012, 3(1): 30-33. DOI: 10.1159/000338816.
8.	Seifert W, Kühnisch J, Maritzen T, et al. Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth[J]. J Biol Chem, 2015, 290(6): 3349-3358. DOI: 10.1074/jbc.M114.608174.
9.	Seifert W, Holder-Espinasse M, Kühnisch J, et al. Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1[J/OL]. Hum Mutat, 2009, 30(2): E404-420[2009-02-01]. https://pubmed.ncbi.nlm.nih.gov/19006247/. DOI: 10.1002/humu.20886.
10.	Rotsos TG, Moschos MM. Cystoid macular edema[J]. Clin Ophthalmol, 2008, 2(4): 919-930. DOI: 10.2147/opth.s4033.

1. Nasser F, Kurtenbach A, Biskup S, et al. Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene[J/OL]. Acta Ophthalmol, 2020, 98(3): e316-e321[2019-10-03]. https://pubmed.ncbi.nlm.nih.gov/31580008/. DOI: 10.1111/aos.14255.
2. Gabrielle PH, Faivre L, Audo I, et al. Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy[J/OL]. Sci Rep, 2021, 11(1): 16412-16423[2021-08-12]. https://pubmed.ncbi.nlm.nih.gov/34385517/. DOI: 10.1038/s41598-021-95743-8.
3. Huang LC, Kelly JP, Cabrera MT, et al. Optical coherence tomography findings in Cohen syndrome[J]. J AAPOS, 2020, 24(5): 306-309. DOI: 10.1016/j.jaapos.2020.07.004.
4. Chandler KE, Biswas S, Lloyd IC, et al. The ophthalmic findings in Cohen syndrome[J]. Br J Ophthalmol, 2002, 86(12): 1395-1398. DOI: 10.1136/bjo.86.12.1395.
5. Liles CA, Tensmeyer MS, York JM, et al. Cystoid macular edema in a 10-year-old boy with Cohen syndrome[J/OL]. Cureus, 2020, 12(6): e8443-e8449[2020-06-04]. https://pubmed.ncbi.nlm.nih.gov/32642357/. DOI: 10.7759/cureus.8443.
6. Yang C, Hou M, Li Y, et al. Gene analysis: a rare gene disease of intellectual deficiency-Cohen syndrome[J]. Int J Dev Neurosci, 2018, 68(1): 83-88. DOI: 10.1016/j.ijdevneu.2018.05.004.
7. Athanasakis E, Fabretto A, Faletra F, et al. Two novel COH1 mutations in an Italian patient with Cohen syndrome[J]. Mol Syndromol, 2012, 3(1): 30-33. DOI: 10.1159/000338816.
8. Seifert W, Kühnisch J, Maritzen T, et al. Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth[J]. J Biol Chem, 2015, 290(6): 3349-3358. DOI: 10.1074/jbc.M114.608174.
9. Seifert W, Holder-Espinasse M, Kühnisch J, et al. Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1[J/OL]. Hum Mutat, 2009, 30(2): E404-420[2009-02-01]. https://pubmed.ncbi.nlm.nih.gov/19006247/. DOI: 10.1002/humu.20886.
10. Rotsos TG, Moschos MM. Cystoid macular edema[J]. Clin Ophthalmol, 2008, 2(4): 919-930. DOI: 10.2147/opth.s4033.

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