伴晶状体后圆锥改变的家族性渗出性玻璃体视网膜病变1例_Chinese Journal of Ocular Fundus Diseases

Authors：

杜璐 , 窦国睿 , 张自峰 , 李曼红 , 武静 , 孙嘉星 ,  周健

空军军医大学西京医院眼科全军眼科研究所, 西安 710032;

Corresponding author：

周健, Email: zhoujian@fmmu.edu.cn

Keywords：

家族性渗出性玻璃体视网膜病变; 高度近视; 晶状体后圆锥; 白内障; 病例报告

DOI：

10.3760/cma.j.cn511434-20220614-00358

Video：

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Citation： 杜璐, 窦国睿, 张自峰, 李曼红, 武静, 孙嘉星, 周健. 伴晶状体后圆锥改变的家族性渗出性玻璃体视网膜病变1例. Chinese Journal of Ocular Fundus Diseases, 2023, 39(12): 1010-1012. doi: 10.3760/cma.j.cn511434-20220614-00358 Copy

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.	Sen P, Sreenivasan J. Commentary: familial exudative vitreoretinopathy-the masquerade in pediatric retinal disorders[J]. Indian J Ophthalmol, 2022, 70(7): 2496-2497. DOI: 10.4103/ijo.IJO_216_22.
3.	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): e271326[2022-07-13]. https://pubmed.ncbi.nlm.nih.gov/35830446/. DOI: 10.1371/journal.pone.0271326.
4.	Qi D, Liu S, Yu T. Characterization of unique lens morphology in a cohort of children with familial exudative vitreoretinopathy[J]. Curr Eye Res, 2020, 45(10): 1222-1227. DOI: 10.1080/02713683.2020.1737715.
5.	Cheeseman EW Jr, Bressler NM, Hunter DG. Familial exudative vitreoretinopathy associated with monocular axial myopia[J]. Retina, 1999, 19(3): 257-259. DOI: 10.1097/00006982-199903000-00017.
6.	Van Nouhuys CE. Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina[J]. Doc Ophthalmol, 1982, 54(1-4): 1-414. DOI: 10.1007/BF00183127.
7.	Yang CI, Chen SN, Yang ML. Excessive myopia and anisometropia associated with familial exudative vitreoretinopathy[J]. Chang Gung Med J, 2002, 25(6): 388-392.
8.	Li S, Yang M, Zhao R, et al. Defective EMC1 drives abnormal retinal angiogenesis via Wnt/beta-catenin signaling and may be associated with the pathogenesis of familial exudative vitreoretinopathy[J]. Genes Dis, 2023, 10(6): 2572-2585. DOI: 10.1016/j.gendis.2022.10.003.
9.	Katargina LA, Chesnokova NB, Denisova EV, et al. The role of endothelin-1 in the pathogenesis of familial exudative vitreoretinopathy[J]. Vestn Oftalmol, 2023, 139(5): 14-18. DOI: 10.17116/oftalma202313905114.
10.	Le V, Abdelmessih G, Dailey WA, et al. Mechanisms underlying rare inherited pediatric retinal vascular diseases: FEVR, norrie disease, persistent fetal vascular syndrome[J/OL]. Cells, 2023, 12(21): 2579[2023-11-05]. https://pubmed.ncbi.nlm.nih.gov/37947657/. DOI: 10.3390/cells12212579.

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. Sen P, Sreenivasan J. Commentary: familial exudative vitreoretinopathy-the masquerade in pediatric retinal disorders[J]. Indian J Ophthalmol, 2022, 70(7): 2496-2497. DOI: 10.4103/ijo.IJO_216_22.
3. 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): e271326[2022-07-13]. https://pubmed.ncbi.nlm.nih.gov/35830446/. DOI: 10.1371/journal.pone.0271326.
4. Qi D, Liu S, Yu T. Characterization of unique lens morphology in a cohort of children with familial exudative vitreoretinopathy[J]. Curr Eye Res, 2020, 45(10): 1222-1227. DOI: 10.1080/02713683.2020.1737715.
5. Cheeseman EW Jr, Bressler NM, Hunter DG. Familial exudative vitreoretinopathy associated with monocular axial myopia[J]. Retina, 1999, 19(3): 257-259. DOI: 10.1097/00006982-199903000-00017.
6. Van Nouhuys CE. Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina[J]. Doc Ophthalmol, 1982, 54(1-4): 1-414. DOI: 10.1007/BF00183127.
7. Yang CI, Chen SN, Yang ML. Excessive myopia and anisometropia associated with familial exudative vitreoretinopathy[J]. Chang Gung Med J, 2002, 25(6): 388-392.
8. Li S, Yang M, Zhao R, et al. Defective EMC1 drives abnormal retinal angiogenesis via Wnt/beta-catenin signaling and may be associated with the pathogenesis of familial exudative vitreoretinopathy[J]. Genes Dis, 2023, 10(6): 2572-2585. DOI: 10.1016/j.gendis.2022.10.003.
9. Katargina LA, Chesnokova NB, Denisova EV, et al. The role of endothelin-1 in the pathogenesis of familial exudative vitreoretinopathy[J]. Vestn Oftalmol, 2023, 139(5): 14-18. DOI: 10.17116/oftalma202313905114.
10. Le V, Abdelmessih G, Dailey WA, et al. Mechanisms underlying rare inherited pediatric retinal vascular diseases: FEVR, norrie disease, persistent fetal vascular syndrome[J/OL]. Cells, 2023, 12(21): 2579[2023-11-05]. https://pubmed.ncbi.nlm.nih.gov/37947657/. DOI: 10.3390/cells12212579.

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Chinese Journal of Ocular Fundus Diseases

伴晶状体后圆锥改变的家族性渗出性玻璃体视网膜病变1例

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