Bibliometric analysis of research hotspots and trends in familial exudative vitreoretinopathy from 2014 to 2023_Chinese Journal of Ocular Fundus Diseases

Authors：

Chai Xiaoyan ¹ , Zhang Yulin ² , Yang Yuhang ² ,  Zhang Guoming ²

1. The Second Clinical Medical College of Jinan University, Shenzhen 518040 China;
2. Shenzhen Eye Hospital, Jinan University, Shenzhen Eye Institute, Shenzhen 518040, China;

Corresponding author：

Zhang Guoming, Email: zhangguoming@sz-eyes.com

Keywords：

Familial exudative vitreoretinopathy; Bibliometrics; Citespace; Trend

DOI：

10.3760/cma.j.cn511434-20240515-00197

Video：

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Objective To understand research hotspots and future development trends in the field of familial exudative vitreoretinopathy (FEVR) from 2014 to 2023. Methods Relevant literature on FEVR was retrieved using the Web of Science Core Collection (SSCI and SCI-Expanded) from the Institute for Scientific Information. The bibliometric analysis software CiteSpace 6.2.R3 was used to analyze countries or regions, institutions, authors, co-cited references, and keywords. Results A total of 316 FEVR-related articles were included. The annual number of publications in this field showed a fluctuating upward trend from 2014 to 2023, with the highest number of publications in 2022, 51 papers (16.14%, 51/316); and the lowest in 2015, 15 papers (4.75%, 15/316). China had the highest number of publications, with 137 papers (43.35%, 137/316). Among institutions, Shanghai Jiao Tong University ranked first with 43 papers, while Professor Zhao Peiquan from Xinhua Hospital of Shanghai Jiao Tong University, had the highest number of publications among authors, with 34 papers. The country with the highest betweenness centrality was the United States, 0.91; the institution was the Chinese Academy of Medical Sciences, 0.16; and the author was Ding Xiaoyan, 0.12. The 316 papers were clustered into four research areas: #0 clinical characteristics, #1 ndp, #2 norrie disease, and #3 retinopathy of prematurity. Keywords such as "Chinese patients," "TSPAN12," "variants," and "spectrum" remained highly frequent up to 2023. Conclusions The number of publications on FEVR research from 2014 to 2023 show a growth trend, with Chinese research institutions and scholars contributing the most. Research on pathogenic genotypes and clinical phenotypes remains a crucial direction for future development.

1.	Criswick VG, Schepens CL. Familial exudative vitreoretinopathy[J]. Am J Ophthalmol, 1969, 68(4): 578-594. DOI: 10.1016/0002-9394(69)91237-9.
2.	Wang X, Chen J, Xiong H, et al. Genotype-phenotype associations in familial exudative vitreoretinopathy: a systematic review and meta-analysis on more than 3200 individuals[J/OL]. PLoS One, 2022, 17(7): e0271326[2022-07-13]. https://pubmed.ncbi.nlm.nih.gov/35830446/. DOI: 10.1371/journal.pone.0271326.
3.	Lu J, Huang L, Sun L, et al. FZD4 in a large Chinese population with familial exudative vitreoretinopathy: molecular characteristics and clinical manifestations[J]. Invest Ophthalmol Vis Sci, 2022, 63(4): 7. DOI: 10.1167/iovs.63.4.7.
4.	Ranchod TM, Ho LY, Drenser KA, et al. Clinical presentation of familial exudative vitreoretinopathy[J]. Ophthalmology, 2011, 118(10): 2070-2075. DOI: 10.1016/j.ophtha.2011.06.020.
5.	Tang H, Li N, Li Z, et al. Fundus examination of 199851 newborns by digital imaging in China: a multicentre cross-sectional study[J]. Br J Ophthalmol, 2018, 102(12): 1742-1746. DOI: 10.1136/bjophthalmol-2018-312366.
6.	Deng X, Chen K, Chen Y, et al. Vessels characteristics in familial exudative vitreoretinopathy and retinopathy of prematurity based on deep convolutional neural networks[J/OL]. Front Pediatr, 2023, 11: 1252875[2023-08-24]. https://pubmed.ncbi.nlm.nih.gov/37691773/. DOI: 10.3389/fped.2023.1252875.
7.	Ninkov A, Frank JR, Maggio LA. Bibliometrics: methods for studying academic publishing[J]. Perspect Med Educ, 2022, 11(3): 173-176. DOI: 10.1007/s40037-021-00695-4.
8.	Synnestvedt MB, Chen C, Holmes JH. CiteSpace Ⅱ: visualization and knowledge discovery in bibliographic databases[J]. AMIA Annu Symp Proc, 2005, 2005: 724-728.
9.	陈悦, 陈超美, 刘则渊, 等. CiteSpace知识图谱的方法论功能[J]. 科学学研究, 2015, 33(2): 242-253. DOI: 10.16192/j.cnki.1003-2053.2015.02.009.Chen Y, Chen CM, Liu ZY, et al. The methodology function of CiteSpace mapping knowledge domains[J]. Studies in Science of Science, 2015, 33(2): 242-253. DOI: 10.16192/j.cnki.1003-2053.2015.02.009.
10.	Gilmour DF. Familial exudative vitreoretinopathy and related retinopathies[J]. Eye (Lond), 2015, 29(1): 1-14. DOI: 10.1038/eye.2014.70.
11.	Salvo J, Lyubasyuk V, Xu M, et al. Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients[J]. Invest Ophthalmol Vis Sci, 2015, 56(3): 1937-1946. DOI: 10.1167/iovs.14-16065.
12.	Poulter JA, Davidson AE, Ali M, et al. Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR)[J]. Invest Ophthalmol Vis Sci, 2012, 53(6): 2873-2879. DOI: 10.1167/iovs.11-8629.
13.	Poulter JA, Ali M, Gilmour DF, et al. Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy[J]. Am J Hum Genet, 2010, 86(2): 248-253. DOI: 10.1016/j.ajhg.2010.01.012.
14.	Nikopoulos K, Gilissen C, Hoischen A, et al. Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy[J]. Am J Hum Genet, 2010, 86(2): 240-247. DOI: 10.1016/j.ajhg.2009.12.016.
15.	Collin RW, Nikopoulos K, Dona M, et al. ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature[J]. Proc Natl Acad Sci USA, 2013, 110(24): 9856-9861. DOI: 10.1073/pnas.1220864110.
16.	Kashani AH, Brown KT, Chang E, et al. Diversity of retinal vascular anomalies in patients with familial exudative vitreoretinopathy[J]. Ophthalmology, 2014, 121(11): 2220-2227. DOI: 10.1016/j.ophtha.2014.05.029.
17.	Wu JH, Liu JH, Ko YC, et al. Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy[J]. Hum Mol Genet, 2016, 25(8): 1637-1647. DOI: 10.1093/hmg/ddw041.
18.	Li JK, Li Y, Zhang X, et al. Spectrum of variants in 389 Chinese probands with familial exudative vitreoretinopathy[J]. Invest Ophthalmol Vis Sci, 2018, 59(13): 5368-5381. DOI: 10.1167/iovs.17-23541.
19.	Zhang L, Zhang X, Xu H, et al. Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy[J]. Genet Med, 2020, 22(1): 77-84. DOI: 10.1038/s41436-019-0571-5.
20.	Zhang T, Wang Z, Sun L, et al. Ultra-wide-field scanning laser ophthalmoscopy and optical coherence tomography in FEVR: findings and its diagnostic ability[J]. Br J Ophthalmol, 2021, 105(7): 995-1001. DOI: 10.1136/bjophthalmol-2020-316226.
21.	Wang Y, Lai Y, Zhou X, et al. Ultra-ltra/widefield optical coherence tomography angiography in mild familial exudative vitreoretinopathy[J]. Retina, 2023, 43(6): 932-939. DOI: 10.1097/iae.0000000000003754.
22.	Lyu J, Zhang Q, Xu Y, et al. Intravitreal ranibizumab treatment for advanced familial exudative vitreoretinopathy with high vascular activity[J]. Retina, 2021, 41(9): 1976-1985. DOI: 10.1097/iae.0000000000003122.
23.	Huang L, Liang T, Lyu J, et al. Clinical features and surgical outcomes of encircling scleral bucking with cryotherapy in familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment[J]. Retina, 2022, 42(1): 55-63. DOI: 10.1097/iae.0000000000003280.
24.	Dickinson JL, Sale MM, Passmore A, et al. Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity[J]. Clin Exp Ophthalmol, 2006, 34(7): 682-688. DOI: 10.1111/j.1442-9071.2006.01314.x.
25.	Warden SM, Andreoli CM, Mukai S. The Wnt signaling pathway in familial exudative vitreoretinopathy and Norrie disease[J]. Semin Ophthalmol, 2007, 22(4): 211-217. DOI: 10.1080/088205 30701745124.
26.	Wang Z, Liu CH, Huang S, et al. Wnt signaling in vascular eye diseases[J]. Prog Retin Eye Res, 2019, 70: 110-133. DOI: 10.1016/j.preteyeres.2018.11.008.
27.	杨依柳, 陆方. 家族性渗出性玻璃体视网膜病变的致病基因与相关信号通路研究进展[J]. 中华眼底病杂志, 2023, 39(7): 594-599. DOI: 10.3760/cma.j.cn511434-20221102-00572.Yang YL, Lu F. Research progresses on pathogenic genes and related signal pathways of familial exudative vitreoretinopathy[J]. Chin J Ocul Fundus Dis, 2023, 39(7): 594-599. DOI: 10.3760/cma.j.cn511434-20221102-00572.
28.	Tao T, Xu N, Li J, et al. Ocular features and mutation spectrum of patients with familial exudative vitreoretinopathy[J]. Invest Ophthalmol Vis Sci, 2021, 62(15): 4. DOI: 10.1167/iovs.62.15.4.
29.	Xu Y, Huang L, Li J, et al. Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy[J]. Mol Vis, 2014, 20: 1296-1306.
30.	Li W, Wang Z, Sun Y, et al. A start codon mutation of the TSPAN12 gene in Chinese families causes clinical heterogeneous familial exudative vitreoretinopathy[J/OL]. Mol Genet Genomic Med, 2019, 7(10): e00948[2019-08-06]. https://pubmed.ncbi.nlm.nih.gov/31452356/. DOI: 10.1002/mgg3.948.

1. Criswick VG, Schepens CL. Familial exudative vitreoretinopathy[J]. Am J Ophthalmol, 1969, 68(4): 578-594. DOI: 10.1016/0002-9394(69)91237-9.
2. Wang X, Chen J, Xiong H, et al. Genotype-phenotype associations in familial exudative vitreoretinopathy: a systematic review and meta-analysis on more than 3200 individuals[J/OL]. PLoS One, 2022, 17(7): e0271326[2022-07-13]. https://pubmed.ncbi.nlm.nih.gov/35830446/. DOI: 10.1371/journal.pone.0271326.
3. Lu J, Huang L, Sun L, et al. FZD4 in a large Chinese population with familial exudative vitreoretinopathy: molecular characteristics and clinical manifestations[J]. Invest Ophthalmol Vis Sci, 2022, 63(4): 7. DOI: 10.1167/iovs.63.4.7.
4. Ranchod TM, Ho LY, Drenser KA, et al. Clinical presentation of familial exudative vitreoretinopathy[J]. Ophthalmology, 2011, 118(10): 2070-2075. DOI: 10.1016/j.ophtha.2011.06.020.
5. Tang H, Li N, Li Z, et al. Fundus examination of 199851 newborns by digital imaging in China: a multicentre cross-sectional study[J]. Br J Ophthalmol, 2018, 102(12): 1742-1746. DOI: 10.1136/bjophthalmol-2018-312366.
6. Deng X, Chen K, Chen Y, et al. Vessels characteristics in familial exudative vitreoretinopathy and retinopathy of prematurity based on deep convolutional neural networks[J/OL]. Front Pediatr, 2023, 11: 1252875[2023-08-24]. https://pubmed.ncbi.nlm.nih.gov/37691773/. DOI: 10.3389/fped.2023.1252875.
7. Ninkov A, Frank JR, Maggio LA. Bibliometrics: methods for studying academic publishing[J]. Perspect Med Educ, 2022, 11(3): 173-176. DOI: 10.1007/s40037-021-00695-4.
8. Synnestvedt MB, Chen C, Holmes JH. CiteSpace Ⅱ: visualization and knowledge discovery in bibliographic databases[J]. AMIA Annu Symp Proc, 2005, 2005: 724-728.
9. 陈悦, 陈超美, 刘则渊, 等. CiteSpace知识图谱的方法论功能[J]. 科学学研究, 2015, 33(2): 242-253. DOI: 10.16192/j.cnki.1003-2053.2015.02.009.Chen Y, Chen CM, Liu ZY, et al. The methodology function of CiteSpace mapping knowledge domains[J]. Studies in Science of Science, 2015, 33(2): 242-253. DOI: 10.16192/j.cnki.1003-2053.2015.02.009.
10. Gilmour DF. Familial exudative vitreoretinopathy and related retinopathies[J]. Eye (Lond), 2015, 29(1): 1-14. DOI: 10.1038/eye.2014.70.
11. Salvo J, Lyubasyuk V, Xu M, et al. Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients[J]. Invest Ophthalmol Vis Sci, 2015, 56(3): 1937-1946. DOI: 10.1167/iovs.14-16065.
12. Poulter JA, Davidson AE, Ali M, et al. Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR)[J]. Invest Ophthalmol Vis Sci, 2012, 53(6): 2873-2879. DOI: 10.1167/iovs.11-8629.
13. Poulter JA, Ali M, Gilmour DF, et al. Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy[J]. Am J Hum Genet, 2010, 86(2): 248-253. DOI: 10.1016/j.ajhg.2010.01.012.
14. Nikopoulos K, Gilissen C, Hoischen A, et al. Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy[J]. Am J Hum Genet, 2010, 86(2): 240-247. DOI: 10.1016/j.ajhg.2009.12.016.
15. Collin RW, Nikopoulos K, Dona M, et al. ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature[J]. Proc Natl Acad Sci USA, 2013, 110(24): 9856-9861. DOI: 10.1073/pnas.1220864110.
16. Kashani AH, Brown KT, Chang E, et al. Diversity of retinal vascular anomalies in patients with familial exudative vitreoretinopathy[J]. Ophthalmology, 2014, 121(11): 2220-2227. DOI: 10.1016/j.ophtha.2014.05.029.
17. Wu JH, Liu JH, Ko YC, et al. Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy[J]. Hum Mol Genet, 2016, 25(8): 1637-1647. DOI: 10.1093/hmg/ddw041.
18. Li JK, Li Y, Zhang X, et al. Spectrum of variants in 389 Chinese probands with familial exudative vitreoretinopathy[J]. Invest Ophthalmol Vis Sci, 2018, 59(13): 5368-5381. DOI: 10.1167/iovs.17-23541.
19. Zhang L, Zhang X, Xu H, et al. Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy[J]. Genet Med, 2020, 22(1): 77-84. DOI: 10.1038/s41436-019-0571-5.
20. Zhang T, Wang Z, Sun L, et al. Ultra-wide-field scanning laser ophthalmoscopy and optical coherence tomography in FEVR: findings and its diagnostic ability[J]. Br J Ophthalmol, 2021, 105(7): 995-1001. DOI: 10.1136/bjophthalmol-2020-316226.
21. Wang Y, Lai Y, Zhou X, et al. Ultra-ltra/widefield optical coherence tomography angiography in mild familial exudative vitreoretinopathy[J]. Retina, 2023, 43(6): 932-939. DOI: 10.1097/iae.0000000000003754.
22. Lyu J, Zhang Q, Xu Y, et al. Intravitreal ranibizumab treatment for advanced familial exudative vitreoretinopathy with high vascular activity[J]. Retina, 2021, 41(9): 1976-1985. DOI: 10.1097/iae.0000000000003122.
23. Huang L, Liang T, Lyu J, et al. Clinical features and surgical outcomes of encircling scleral bucking with cryotherapy in familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment[J]. Retina, 2022, 42(1): 55-63. DOI: 10.1097/iae.0000000000003280.
24. Dickinson JL, Sale MM, Passmore A, et al. Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity[J]. Clin Exp Ophthalmol, 2006, 34(7): 682-688. DOI: 10.1111/j.1442-9071.2006.01314.x.
25. Warden SM, Andreoli CM, Mukai S. The Wnt signaling pathway in familial exudative vitreoretinopathy and Norrie disease[J]. Semin Ophthalmol, 2007, 22(4): 211-217. DOI: 10.1080/088205 30701745124.
26. Wang Z, Liu CH, Huang S, et al. Wnt signaling in vascular eye diseases[J]. Prog Retin Eye Res, 2019, 70: 110-133. DOI: 10.1016/j.preteyeres.2018.11.008.
27. 杨依柳, 陆方. 家族性渗出性玻璃体视网膜病变的致病基因与相关信号通路研究进展[J]. 中华眼底病杂志, 2023, 39(7): 594-599. DOI: 10.3760/cma.j.cn511434-20221102-00572.Yang YL, Lu F. Research progresses on pathogenic genes and related signal pathways of familial exudative vitreoretinopathy[J]. Chin J Ocul Fundus Dis, 2023, 39(7): 594-599. DOI: 10.3760/cma.j.cn511434-20221102-00572.
28. Tao T, Xu N, Li J, et al. Ocular features and mutation spectrum of patients with familial exudative vitreoretinopathy[J]. Invest Ophthalmol Vis Sci, 2021, 62(15): 4. DOI: 10.1167/iovs.62.15.4.
29. Xu Y, Huang L, Li J, et al. Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy[J]. Mol Vis, 2014, 20: 1296-1306.
30. Li W, Wang Z, Sun Y, et al. A start codon mutation of the TSPAN12 gene in Chinese families causes clinical heterogeneous familial exudative vitreoretinopathy[J/OL]. Mol Genet Genomic Med, 2019, 7(10): e00948[2019-08-06]. https://pubmed.ncbi.nlm.nih.gov/31452356/. DOI: 10.1002/mgg3.948.

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Latest ArticlesBibliometric analysis of research hotspots and trends in familial exudative vitreoretinopathy from 2014 to 2023

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