Fundus Analysis of Familial Exudative Vitreoretinopathy_Chinese Journal of Evidence-Based Medicine

Authors：

 LIUJin-nan ¹ , XUTing-ting ² , XINMei ¹ , LIYan-jiao ¹ , ZUOCheng ¹ ,  ZHANGMei-xia ¹

1. Department of Ophthalmology, West China School of Medicine/West China Hospital, Sichuan University, Chengdu 610041, China;
2. Department of Ophthalmology, Hospital of T. A. R Chengdu Office of West China Hospital, Chengdu 610041, China;

Corresponding?author：

ZHANGMei-xia, Email: zhangmeixia@medmail.com.cn

Keywords：

Familial exudative vitreoretinopathy; Stage; Fundus photography; Fundus fluorescein angiography

DOI：

10.7507/1672-2531.20140113

Video：

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Objective To observe and explore the fundus characteristics and fundus fluorescein angiography of familial exudative vitreoretinopathy (FEVR) in different stages. Methods A total of 15 patients (23 eyes) diagnosed as FEVR in the West China Hospital of Sichuan University from January 2007 to November 2013 were included. Clinical data and reports of fundus exams and fundus fluorescein angiography (FFA) were retrospectively analyzed. Results One eye (4.35%) was classified as stage Ⅰ, 10 eyes (43.48%) were classified as stage Ⅱ, 8 eyes (34.78%) were classified as stage Ⅲ, and 1 eye (4.35%) and 3 eyes (13.04%) were classified as stage Ⅳ and V, respectively. The outcomes of fundus exams showed that the number of peripheral retinal blood vessels increased, and vessels straightened as well as narrowed, especially in the temporal area. FFA showed blood vessels suddenly shut in the equatorial retina and peripheral non-perfusion areas were observed. Conclusion Typical fundus characteristics and fundus fluorescein angiography changes of FEVR can be observed in different stages. Comprehensive fundus exams and family history are helpful to confirm relevant diagnosis.

Citation： LIUJin-nan, XUTing-ting, XINMei, LIYan-jiao, ZUOCheng, ZHANGMei-xia. Fundus Analysis of Familial Exudative Vitreoretinopathy. Chinese Journal of Evidence-Based Medicine, 2014, 14(6): 668-670. doi: 10.7507/1672-2531.20140113 Copy

1.	?Canny CLB, Oliver GL. Fluorescein angiographic findings in familial exudative vitreoretinopathy. Areh Ophthalmology, 1976, 94:1114-1120.
2.	Criswick VG, Schepens CL. Familial exudative vitreoretinapathy. Am J Ophthalmol, 1969, 68:578-594.
3.	梁樹今, 廖菊生, 高育英, 等主編.眼底熒光血管造影釋義.河北:人民出版社, 1980:17-19.
4.	張琦, 趙培泉.家族性滲出性玻璃體視網膜病變的熒光素眼底血管造影特征及其診斷價值.中華眼底病雜志, 2011, 27(3):263-266.
5.	鄭志坤, 黎鏵, 李娟娟, 等.家族性滲出性玻璃體視網膜病變的熒光素眼底血管造影分析.臨床眼科雜志, 2011, 19(6):542-544.
6.	Ranchod TM, Ho LY, Drenser KA, et al. Clinical presentation of familial exudative vitreoretinopathy. Ophthalmology, 2011, 118(10): 2070-2075.
7.	Shastry BS, Trese MT. Familial exudative vitreoretinopathy:further evidence for genetic heterogeneity. Am J Med Genet, 1997, 69:217-218.
8.	Yang H, Li S, Xiao X, et al. Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy. Mol Vis, 2012, 18:2438-2446.
9.	Poulter JA, Ali M, Gilmour DF, et al. Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. Am J Hum Genet, 2010, 86(2):248-253.
10.	賈力蘊, 張風, 黎曉新. FZD4基因與家族性滲出性玻璃體視網膜病變關系的研究.眼科, 2013, 22(4):224-229.
11.	楊文杰, 張琦, 趙培泉.家族性滲出性玻璃體視網膜病變致病基因及信號傳導途徑.中華眼底病雜志, 2011, 27(5):497-499.
12.	馬文尊.眼底熒光血管造影對家族性滲出性玻璃體視網膜病變早期的診斷和篩查價值.醫學影像學雜志, 2013, 23(6):971-971.
13.	Shukla SY, Kaliki S, Shields CL. Asymmetry of familial exudative vitreoretinopathy. J Pediatr Ophthalmol Strabismus, doi: 10.3928/01913913-20120221-01.
14.	Chen SN, Hwang JF, Lin CJ. Clinical characteristics and surgical management of familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment. Retina, 2012, 32(2):220-225.
15.	Khwarg JW, Bourla D, Gonzales CA, et al. Familial exudative vitreoretinopathy and macular hole exhibited in same individual. Semin Ophthalmol, 2007, 22(2):85-86.
16.	Shimouchi A, Takahashi A, Nagaoka T, et al. Vitreomacular interface in patients with familial exudative vitreoretinopathy. Int Ophthalmol, 2013, 33(6):711-715.
17.	Quiram PA, Drenser KA, Lai MM, et al. Treatment of vascularly active familial exudative vitreoretinopathy with pegaptanib sodium (Macugen). Retina, 2008, 28(3 Suppl):S8-12.
18.	Javellana JA, Drouilhet JH, Kokame GT, et al. Retinal capillary angioma in familial exudative vitreoretinopathy treated with photodynamic therapy. Am J Ophthalmol, 2004, 137(4):780-782.
19.	Tagami M, Kusuhara S, Honda S, et al. Rapid regression of retinal hemorrhage and neovascularization in a case of familial exudative vitreoretinopathy treated with intravitreal bevacizumab. Graefes Arch Clin Exp Ophthalmol, 2008, 246(12):1787-1789.
20.	Pi?ero AM, Sempere J, Nadal J, et al. Familial exudative vitreoretinopathy:our experience. Arch Soc Esp Oftalmol, 2008, 83(12):703-707.
21.	Shukla D, Singh J, Sudheer G, et al. Familial exudative vitreoretinopathy (FEVR). Clinical profile and management. Indian J Ophthalmol, 2003, 51(4):323-328.

1. ?Canny CLB, Oliver GL. Fluorescein angiographic findings in familial exudative vitreoretinopathy. Areh Ophthalmology, 1976, 94:1114-1120.
2. Criswick VG, Schepens CL. Familial exudative vitreoretinapathy. Am J Ophthalmol, 1969, 68:578-594.
3. 梁樹今, 廖菊生, 高育英, 等主編.眼底熒光血管造影釋義.河北:人民出版社, 1980:17-19.
4. 張琦, 趙培泉.家族性滲出性玻璃體視網膜病變的熒光素眼底血管造影特征及其診斷價值.中華眼底病雜志, 2011, 27(3):263-266.
5. 鄭志坤, 黎鏵, 李娟娟, 等.家族性滲出性玻璃體視網膜病變的熒光素眼底血管造影分析.臨床眼科雜志, 2011, 19(6):542-544.
6. Ranchod TM, Ho LY, Drenser KA, et al. Clinical presentation of familial exudative vitreoretinopathy. Ophthalmology, 2011, 118(10): 2070-2075.
7. Shastry BS, Trese MT. Familial exudative vitreoretinopathy:further evidence for genetic heterogeneity. Am J Med Genet, 1997, 69:217-218.
8. Yang H, Li S, Xiao X, et al. Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy. Mol Vis, 2012, 18:2438-2446.
9. Poulter JA, Ali M, Gilmour DF, et al. Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. Am J Hum Genet, 2010, 86(2):248-253.
10. 賈力蘊, 張風, 黎曉新. FZD4基因與家族性滲出性玻璃體視網膜病變關系的研究.眼科, 2013, 22(4):224-229.
11. 楊文杰, 張琦, 趙培泉.家族性滲出性玻璃體視網膜病變致病基因及信號傳導途徑.中華眼底病雜志, 2011, 27(5):497-499.
12. 馬文尊.眼底熒光血管造影對家族性滲出性玻璃體視網膜病變早期的診斷和篩查價值.醫學影像學雜志, 2013, 23(6):971-971.
13. Shukla SY, Kaliki S, Shields CL. Asymmetry of familial exudative vitreoretinopathy. J Pediatr Ophthalmol Strabismus, doi: 10.3928/01913913-20120221-01.
14. Chen SN, Hwang JF, Lin CJ. Clinical characteristics and surgical management of familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment. Retina, 2012, 32(2):220-225.
15. Khwarg JW, Bourla D, Gonzales CA, et al. Familial exudative vitreoretinopathy and macular hole exhibited in same individual. Semin Ophthalmol, 2007, 22(2):85-86.
16. Shimouchi A, Takahashi A, Nagaoka T, et al. Vitreomacular interface in patients with familial exudative vitreoretinopathy. Int Ophthalmol, 2013, 33(6):711-715.
17. Quiram PA, Drenser KA, Lai MM, et al. Treatment of vascularly active familial exudative vitreoretinopathy with pegaptanib sodium (Macugen). Retina, 2008, 28(3 Suppl):S8-12.
18. Javellana JA, Drouilhet JH, Kokame GT, et al. Retinal capillary angioma in familial exudative vitreoretinopathy treated with photodynamic therapy. Am J Ophthalmol, 2004, 137(4):780-782.
19. Tagami M, Kusuhara S, Honda S, et al. Rapid regression of retinal hemorrhage and neovascularization in a case of familial exudative vitreoretinopathy treated with intravitreal bevacizumab. Graefes Arch Clin Exp Ophthalmol, 2008, 246(12):1787-1789.
20. Pi?ero AM, Sempere J, Nadal J, et al. Familial exudative vitreoretinopathy:our experience. Arch Soc Esp Oftalmol, 2008, 83(12):703-707.
21. Shukla D, Singh J, Sudheer G, et al. Familial exudative vitreoretinopathy (FEVR). Clinical profile and management. Indian J Ophthalmol, 2003, 51(4):323-328.

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