Analysis of color Doppler flow imaging features of familial exudative vitreoretinopathy_Chinese Journal of Ocular Fundus Diseases

Authors：

Wang Ziyang ,  Yang Wenli , Li Yifan , Li Dongjun , Chen Wei , Cao Xinyang , An Yang , Yuan Mingzhen , Lu Hai

Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing 100730, China;

Corresponding author：

Yang Wenli, Email: yangwl_tr@163.com

Keywords：

Familial exudative vitreoretinopathy; Color Doppler ultrasonography; Retinal fold

DOI：

10.3760/cma.j.cn511434-20240715-00265

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Objective To analyze the color Doppler flow imaging (CDFI) features of familial exudative vitreoretinopathy (FEVR) at different stages. Methods A retrospective study. A total of 104 patients with 201 eyes from Department of Ophthalmology of Beijing Tongren Hospital who were hospitalized for fundus examination and diagnosed with FEVR from 2018 to 2022 were included. There were 69 male cases with 133 eyes and 35 female cases with 68 eyes. The age was ranged from 2 months to 11 years, with a mean age of 2.9 years. Fundus and CDFI examination were performed in both eyes. Fluorescein fundus angiography was performed in 72 cases (144 eyes). FEVR staging was conducted according to literature standards. The presence of avascular areas in the peripheral retina or abnormal retina neovascularization was stage 1; the presence of retinal neovascularization at the vitreoretinal interface in the avascular area was stage 2; partial retinal detachment without macula involvement was stage 3; partial retinal detachment involving the macula was stage 4; complete retinal detachment was stage 5. The CDFI ultrasound features of FEVR at different stages were analyzed. The CDFI image features of FEVR patients in different stages were observed. Results Among the 104 patients, 97 (93.3%, 97/104) cases were binocular and 7 (6.7%, 7/104) cases were monocular. In 201 eyes, stages 1 to 5 of FEVR were 49 (24.4%, 49/201), 23 (11.4%, 23/201), 39 (19.4%, 39/201), 71 (35.3%, 71/201), and 19 (9.5%, 19/201) eyes, respectively. CDFI examination showed no abnormality or mild vitreous opacity in 49 eyes vitreous body at stage 1. Vitreous opacities were observed in all 23 eyes in stage 2, and the echo of the temporal ballwall was not smooth. In 39 eyes at stage 3, the anterior globular cluster echo in temporal peripheral eyes was observed in 17 eyes and partial retinal detachment was observed in 13 eyes. In 71 eyes at stage 4, 51 eyes had temporal or infratemporal retinal folds, and 20 eyes had temporal retinal detachment. All the 19 eyes in stage 5 had total retinal detachment, of which 15 eyes had closed "funnel-shaped" retinal detachment. Retinal folds were found in 51 eyes, 26 eyes in 13 cases. There were vitreous opacities in 25 eyes of 25 monocular cases, and the contralateral eye had different degrees or banded echoes in front of the temporal eye. Blood flow signals could be detected on the retinal folds with Doppler imaging. Conclusions The CDFI manifestations of FEVR patients at different stages have different characteristics. The possibility of FEVR should be considered when the temporal or infratemporal retinal folds of both eyes are present, as well as the retinal folds of one eye, the contralateral vitreous body opacity, or the anterior temporal peribulbar cluster echoes are present.

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2.	Sızmaz S, Yonekawa Y, T Trese M. Familial exudative vitreoretinopathy[J]. Turk J Ophthalmol, 2015, 45(4): 164-168. DOI: 10.4274/tjo.67699.
3.	Tauqeer Z, Yonekawa Y. Familial exudative vitreoretinopathy: pathophysiology, diagnosis, and management[J]. Asia Pac J Ophthalmol (Phila), 2018, 7(3): 176-182. DOI: 10.22608/APO.201855.
4.	胡毅倩, 周秀莉, 余文晶, 等. 60例FEVR患眼B型超声图像分析[J]. 中国超声医学杂志, 2015, 31(6): 481-483.Hu YQ, Zhou XL, Yu WJ, et al. Ultrasonography findings in 60 cases of familial exudative vitreoretinopathy[J]. Chinese J Ultrasound Med, 2015, 31(6): 481-483.
5.	张琦, 赵培泉. 家族性渗出性玻璃体视网膜病变的荧光素眼底血管造影特征及其诊断价值[J]. 中华眼底病杂志, 2011, 27(3): 263-266. DOI: 10.3760/cma.j.issn.1005-1015.2011.03.015.Zhang Q, Zhao PQ. Characteristics and diagnostic value of fundus fluorescein angiography for familial exudative vitreoretinopathy[J]. Chin J Ocul Fundus Dis, 2011, 27(3): 263-266. DOI: 10.3760/cma.j.issn.1005-1015.2011.03.015.
6.	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.
7.	Criswick VG, Schepens CL. Familial exudative vitreoretinopathy[J]. Am J Ophthalmol, 1969, 68(4): 578-594. DOI: 10.1016/0002-9394(69)91237-9.
8.	Pendergast SD, Trese MT. Familial exudative vitreoretinopathy. Results of surgical management[J]. Ophthalmology, 1998, 105(6): 1015-1023. DOI: 10.1016/S0161-6420(98)96002-X.
9.	张琦, 赵培泉, 蔡璇, 等. 家族性渗出性玻璃体视网膜病变的临床特征[J]. 中华眼底病杂志, 2014, 30(4): 374-377. DOI: 10.3760/cma.j.issn.1005-1015.2014.04.010.Zhang Q, Zhao PQ, Cai X, et al. Clinical features of familial exudative vitreoretinopathy[J]. Chin J Ocul Fundus Dis, 2014, 30(4): 374-377. DOI: 10.3760/cma.j.issn.1005-1015.2014.04.010.
10.	Yuan M, Yang Y, Yu S, et al. Posterior pole retinal abnormalities in mild asymptomatic FEVR[J]. Invest Ophthalmol Vis Sci, 2014, 56(1): 458-463. DOI: 10.1167/iovs.14-15821.
11.	Yuan M, Yang Y, Yan H, et al. Increased posterior retinal vessels in mild asymptomatic familial exudative vitreoretinopathy eyes[J]. Retina, 2016, 36(6): 1209-1215. DOI: 10.1097/IAE.0000000000000830.
12.	Wang Z, Chen C, Sun L, et al. Symmetry of folds in FEVR: a genotype-phenotype correlation study[J/OL]. Exp Eye Res, 2019, 186: 107720[2019-07-09]. https://pubmed.ncbi.nlm.nih.gov/31299183/. DOI: 10.1016/j.exer.2019.107720.
13.	Nishina S, Suzuki Y, Yokoi T, et al. Clinical features of congenital retinal folds[J]. Am J Ophthalmol, 2012, 153(1): 81-87. DOI: 10.1016/j.ajo.2011.06.002.
14.	Robitaille JM, Wallace K, Zheng B, et al. Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees[J]. Ophthalmic Genet, 2009, 30(1): 23-30. DOI: 10.1080/13816810802464312.
15.	Kartchner JZ, Hartnett ME. Familial exudative vitreoretinopathy presentation as persistent fetal vasculature[J]. Am J Ophthalmol Case Rep, 2017, 6: 15-17. DOI: 10.1016/j.ajoc.2017.01.001.
16.	Sen M, Shields CL, Honavar SG, et al. Coats disease: an overview of classification, management and outcomes[J]. Indian J Ophthalmol, 2019, 67(6): 763-771. DOI: 10.4103/ijo.IJO_841_19.
17.	崔蕊, 李栋军, 王子杨, 等. 彩色多普勒超声在视网膜母细胞瘤诊断中的应用价值[J]. 中华医学超声杂志(电子版), 2017, 14(10): 725-729. DOI: 10.3877/cma.j.issn.1672-6448.2017.10.002.Cui R, Li DJ, Wang ZY, et al. Value of color Doppler ultrasonography in the evaluation of retinoblastoma[J]. Chin J Med Ultrasound (Electronic Edition), 2017, 14(10): 725-729. DOI: 10.3877/cma.j.issn.1672-6448.2017.10.002.
18.	Yuan M, Ding X, Yang Y, et al. Clinical features of affected and undetached fellow eyes in patients with fevr-associated rhegmatogenous retinal detachment[J]. Retina, 2017, 37(3): 585-591. DOI: 10.1097/IAE.0000000000001171.

1. Gilmour DF. Familial exudative vitreoretinopathy and related retinopathies[J]. Eye (Lond), 2015, 29(1): 1-14. DOI: 10.1038/eye.2014.70.
2. Sızmaz S, Yonekawa Y, T Trese M. Familial exudative vitreoretinopathy[J]. Turk J Ophthalmol, 2015, 45(4): 164-168. DOI: 10.4274/tjo.67699.
3. Tauqeer Z, Yonekawa Y. Familial exudative vitreoretinopathy: pathophysiology, diagnosis, and management[J]. Asia Pac J Ophthalmol (Phila), 2018, 7(3): 176-182. DOI: 10.22608/APO.201855.
4. 胡毅倩, 周秀莉, 余文晶, 等. 60例FEVR患眼B型超声图像分析[J]. 中国超声医学杂志, 2015, 31(6): 481-483.Hu YQ, Zhou XL, Yu WJ, et al. Ultrasonography findings in 60 cases of familial exudative vitreoretinopathy[J]. Chinese J Ultrasound Med, 2015, 31(6): 481-483.
5. 张琦, 赵培泉. 家族性渗出性玻璃体视网膜病变的荧光素眼底血管造影特征及其诊断价值[J]. 中华眼底病杂志, 2011, 27(3): 263-266. DOI: 10.3760/cma.j.issn.1005-1015.2011.03.015.Zhang Q, Zhao PQ. Characteristics and diagnostic value of fundus fluorescein angiography for familial exudative vitreoretinopathy[J]. Chin J Ocul Fundus Dis, 2011, 27(3): 263-266. DOI: 10.3760/cma.j.issn.1005-1015.2011.03.015.
6. 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.
7. Criswick VG, Schepens CL. Familial exudative vitreoretinopathy[J]. Am J Ophthalmol, 1969, 68(4): 578-594. DOI: 10.1016/0002-9394(69)91237-9.
8. Pendergast SD, Trese MT. Familial exudative vitreoretinopathy. Results of surgical management[J]. Ophthalmology, 1998, 105(6): 1015-1023. DOI: 10.1016/S0161-6420(98)96002-X.
9. 张琦, 赵培泉, 蔡璇, 等. 家族性渗出性玻璃体视网膜病变的临床特征[J]. 中华眼底病杂志, 2014, 30(4): 374-377. DOI: 10.3760/cma.j.issn.1005-1015.2014.04.010.Zhang Q, Zhao PQ, Cai X, et al. Clinical features of familial exudative vitreoretinopathy[J]. Chin J Ocul Fundus Dis, 2014, 30(4): 374-377. DOI: 10.3760/cma.j.issn.1005-1015.2014.04.010.
10. Yuan M, Yang Y, Yu S, et al. Posterior pole retinal abnormalities in mild asymptomatic FEVR[J]. Invest Ophthalmol Vis Sci, 2014, 56(1): 458-463. DOI: 10.1167/iovs.14-15821.
11. Yuan M, Yang Y, Yan H, et al. Increased posterior retinal vessels in mild asymptomatic familial exudative vitreoretinopathy eyes[J]. Retina, 2016, 36(6): 1209-1215. DOI: 10.1097/IAE.0000000000000830.
12. Wang Z, Chen C, Sun L, et al. Symmetry of folds in FEVR: a genotype-phenotype correlation study[J/OL]. Exp Eye Res, 2019, 186: 107720[2019-07-09]. https://pubmed.ncbi.nlm.nih.gov/31299183/. DOI: 10.1016/j.exer.2019.107720.
13. Nishina S, Suzuki Y, Yokoi T, et al. Clinical features of congenital retinal folds[J]. Am J Ophthalmol, 2012, 153(1): 81-87. DOI: 10.1016/j.ajo.2011.06.002.
14. Robitaille JM, Wallace K, Zheng B, et al. Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees[J]. Ophthalmic Genet, 2009, 30(1): 23-30. DOI: 10.1080/13816810802464312.
15. Kartchner JZ, Hartnett ME. Familial exudative vitreoretinopathy presentation as persistent fetal vasculature[J]. Am J Ophthalmol Case Rep, 2017, 6: 15-17. DOI: 10.1016/j.ajoc.2017.01.001.
16. Sen M, Shields CL, Honavar SG, et al. Coats disease: an overview of classification, management and outcomes[J]. Indian J Ophthalmol, 2019, 67(6): 763-771. DOI: 10.4103/ijo.IJO_841_19.
17. 崔蕊, 李栋军, 王子杨, 等. 彩色多普勒超声在视网膜母细胞瘤诊断中的应用价值[J]. 中华医学超声杂志(电子版), 2017, 14(10): 725-729. DOI: 10.3877/cma.j.issn.1672-6448.2017.10.002.Cui R, Li DJ, Wang ZY, et al. Value of color Doppler ultrasonography in the evaluation of retinoblastoma[J]. Chin J Med Ultrasound (Electronic Edition), 2017, 14(10): 725-729. DOI: 10.3877/cma.j.issn.1672-6448.2017.10.002.
18. Yuan M, Ding X, Yang Y, et al. Clinical features of affected and undetached fellow eyes in patients with fevr-associated rhegmatogenous retinal detachment[J]. Retina, 2017, 37(3): 585-591. DOI: 10.1097/IAE.0000000000001171.

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