Diversity of familial exudative vitreoretinopathy_Chinese Journal of Ocular Fundus Diseases

Authors：

Chen Chunli ^1,2 ,  Li Xiaorong ¹

1. Department of Ophthalmology, Tianjin Medical University Eye Hospital School Of Optometry and Ophthalmology and Tianjin Medical University Eye Institute, Tianjin 300384, China;
2. Shengli Oilfield Central Hospital, Dongying City of Shandong Province 300070, China;

Corresponding author：

Li Xiaorong, Email: xiaorli@163.com

Keywords：

Retinal diseases/genetics; Review; Familial exudative vitreoretinopathy

DOI：

10.3760/cma.j.issn.1005-1015.2019.05.022

Video：

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Abstract Full text Figures/Tables Video References Cited by

Familial exudative vitreoretinopathy (FEVR) is a hereditary retinal vascular dysplasia. So far, 6 genes have been found to be associated with FEVR: Wnt receptor Frizzled Protein 4, Norrie's disease, co-receptor low-density lipoprotein receptor-related protein 5, tetraspanin 12, zinc finger protein 408, and kinesin family members 11 genes. Its clinical manifestations, pathological processes and genetic patterns are diverse, and it shows the relationship between gene polymorphism and clinical manifestation diversity. It is characterized by different symptoms between the same individual, the same family, and the same gene mutation; different clinical stages and gene mutation types of parents or unilateral genetic children; different clinical characteristics and gene mutation patterns of full-term and premature infant; combined with other eye disease and systemic diseases; double gene mutations and single gene mutations have different clinical manifestations and gene mutation characteristics. A comprehensive understanding of the different clinical manifestations and diverse genetics of FEVR can provide better guidance for the treatment of FEVR.

Citation： Chen Chunli, Li Xiaorong. Diversity of familial exudative vitreoretinopathy. Chinese Journal of Ocular Fundus Diseases, 2019, 35(5): 517-521. doi: 10.3760/cma.j.issn.1005-1015.2019.05.022 Copy

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2.	van Nouhuys CE. Signs, complications, and platelet aggregation in familial exudative vitreoretinopathy[J]. Am J Ophthalmol, 1991, 111(1): 34-41. DOI: 10.1016/s0002-9394(14)76893-x.
3.	Miyakubo H, Hashimoto K, Miyakubo S. Retinal vascular pattern in familial exudative vitreoretinopathy[J]. Ophthalmology, 1984, 91(12): 1524-1530. DOI: 10.1016/S0161-6420(84)34119-7.
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8.	Toomes C, Bottomley HM, Jackson RM, et al. Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q[J]. Am J Hum Genet, 2004, 74(4): 721-730. DOI: 10.1086/383202.
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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. van Nouhuys CE. Signs, complications, and platelet aggregation in familial exudative vitreoretinopathy[J]. Am J Ophthalmol, 1991, 111(1): 34-41. DOI: 10.1016/s0002-9394(14)76893-x.
3. Miyakubo H, Hashimoto K, Miyakubo S. Retinal vascular pattern in familial exudative vitreoretinopathy[J]. Ophthalmology, 1984, 91(12): 1524-1530. DOI: 10.1016/S0161-6420(84)34119-7.
4. Toomes C, Bottomley HM, Scott S, et al. Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy[J]. Invest Ophthalmol Vis Sci, 2004, 45(7): 2083-2090. DOI: 10.1167/iovs.03-1044.
5. 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.
6. Leow SN, Bastion ML. Familial exudative vitreoretinopathy presenting with unilateral rhegmatogenous retinal detachment in a Malay teenager[J/OL].BMJ Case Rep, 2013, 2013: 009664[2013-05-04]. http://dx.doi.org/10.1136/bcr-2013-009664. DOI: 10.1136/bcr-2013-009664.
7. 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.
8. Toomes C, Bottomley HM, Jackson RM, et al. Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q[J]. Am J Hum Genet, 2004, 74(4): 721-730. DOI: 10.1086/383202.
9. Ranchod TM, Ranchod TM, Ho LY, et al. Clinical presentation of familial exudative vitreoretinopathy[J]. Ophthalmology, 2011, 118(10): 2070-2075. DOI: 10.1016/j.ophtha.2011.06.020.
10. Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez-Pardo A, et al. Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR[J]. Mol Vis, 2005, 11: 705-712.
11. Shukla D, Singh J, Sudheer G, et al. Familial exudative vitreoretinopathy (FEVR): clinical profile and management[J]. Indian J Ophthalmol, 2003, 51(4): 323-328.
12. 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.
13. Shastry BS. Genetic susceptibility to advanced retinopathy of prematurity (ROP)[J]. J Biomed Sci, 2010, 17(1): 69. DOI: 10.1186/1423-0127-17-69.
14. 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, Zhang 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.
15. Milenkovic SM, Jaksic VZ, Jakovic N, et al. Diagnostic and therapeutic challenges[J]. Retina, 2010, 30(9): 1546-1548. DOI: 10.1097/IAE.0b013e3181d4816e.
16. 中华医学会眼科学分会眼底病学组. 中国早产儿视网膜病变筛查指南(2014年)[J]. 中华眼科杂志, 2014, 50(12): 933-935. DOI: 10.3760/cma.j.issn.0412-4081.2014.12.017.Chinese Medical Association Ophthalmology Group. Screening guide for retinopathy of premature infants in China[J]. Chin J Ophthalmol, 2014, 50(12): 933-935. DOI: 10.3760/cma.j.issn.0412-4081.2014.12.017.
17. Sylvester CL. Retinopathy of prematurity[J]. Semin Ophthalmol, 2008, 23(5): 318-323. DOI: 10.1080/08820530802506045.
18. Ells A, Guernsey DL, Wallace K, et al. Severe retinopathy of prematurity associated with FZD4 mutations[J]. Ophthalmic Genet, 2010, 31(1): 37-43. DOI: 10.3109/13816810903479834.
19. Talks SJ, Ebenezer N, Hykin P, et al. De novo mutations in the 5’regulatory region of the Norrie disease gene in retinopathy of prematurity[J]. J Med Genet, 2001, 38(12): 46. DOI: 10.1136/jmg.38.12.e46.
20. Shastry BS, Pendergast SD, Hartzer MK, et al. Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity[J]. Arch Ophthalmol, 1997, 115(5): 651-655. DOI: 10.1001/archopht.1997.01100150653015.
21. Kondo H, Kusaka S, Yoshinaga A, et al. Genetic variants of FZD4 and LRP5 genes in patients with advanced retinopathy of prematurity[J]. Mol Vis, 2013, 19: 476-485.
22. Hiraoka M, Takahashi H, Orimo H, et al. Genetic screening of Wnt signaling factors in advanced retinopathy of prematurity[J]. Mol Vis, 2010, 16: 2572-2577.
23. Benson WE. Familial exudative vitreoretinopathy[J]. Trans Am Ophthalmol Soc, 1995, 93: 473-521.
24. Chang-Godinich A, Paysse EA, Coats DK, et al. Familial exudative vitreoretinopathy mimicking persistent hyperplastic primary vitreous[J]. Am J Ophthalmol, 1999, 127(4): 469-471. DOI: 10.1016/s0002-9394(99)00003-3.
25. Boldrey EE, Egbert P, Gass JD, et al. The histopathology of familial exudative vitreoretinopathy: a report of two cases[J]. Arch Ophthalmol, 1985, 103(2): 238-241. DOI: 10.1001/archopht.1985.01050020090029.
26. Javellana JA, Drouilhet JH, Kokame GT, et al. Retinal capillary angioma in familial exudative vitreoretinopathy treated with photodynamic therapy[J]. Am J Ophthalmol, 2004, 137(4): 780-782. DOI: 10.1016/j.ajo.2003.10.001.
27. Selvan H, SwamyDR, Temkar S, et al. Familial exudative vitreoretinopathy and glaucoma: observations, insights, and management strategies[J]. J Glaucoma, 2018, 27(1): 1-6. DOI: 10.1097/IJG.0000000000000810.
28. Liu J, Zhao P. Lamellar macular hole with lamellar hole-associated epiretinal proliferation in familial exudative vitreoretinopathy[J/OL].Retin Cases Brief Rep, 2018, 2018: E1[2018-08-21]. https://insights.ovid.com/crossref?an=01271216-900000000-98760. DOI: 10.1097/ICB.0000000000000807. [published online ahead of print].
29. Khwarg JW, Bourla D, Gonzales CA, et al. Familial exudative vitreoretinopathy and macular hole exhibited in same individual[J]. Semin Ophthalmol, 2007, 22(2): 85-86. DOI: 10.1080/08820530701418441.
30. Li JK, Fei P, Li Y, et al. Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis[J/OL]. Sci Rep, 2016, 6: 26564[2016-05-23]. https://www.nature.com/articles/srep26564. DOI: 10.1038/srep26564.
31. Simunovic MP, Maberley DA. Familial exudative vitreoretinopathy mimicking macular telangiectasia type 1[J]. Can J Ophthalmol, 2014, 49(1): 28-30. DOI: 10.1016/j.jcjo.2013.11.006.
32. Lavezzo MM, Barreira AK Jr, Zacharias LC, et al. Familial exudative vitreoretinopathy simulating Coats disease: case report[J]. Arq Bras Oftalmol, 2011, 74(4): 292-295. DOI: 10.1590/S0004-27492011000400014.
33. Shimouchi A, Takahashi A, Nagaoka T, et al. Vitreomacular interface in patients with familial exudative vitreoretinopathy[J]. Int Ophthalmol, 2013, 33(6): 711-715. DOI: 10.1007/s10792-012-9707-1.
34. Errais K, Ammous I, Kamoun R, et al. Familial exudative vitreoretinopathy associated with persistence of hyaloid artery[J]. J Fr Ophtalmol, 2008, 31(1): 3.
35. Maltese P, Ziccardi L, Iarossi G, et al. Osteoporosis-pseudoglioma syndrome: report of two cases and a manifesting carrier[J]. Ophthalmic Genet, 2017, 38(5): 473-479. DOI: 10.1080/13816810.2016.1253107.
36. Birtel J, Gliem M, Mangold E, et al. Novel insights into the phenotypical spectrum of kif11-associated retinopathy, including a new form of retinal ciliopathy[J]. Invest Ophthalmol Vis Sci, 2017, 58(10): 3950-3959. DOI: 10.1167/iovs.17-21679.
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Chinese Journal of Ocular Fundus Diseases

Diversity of familial exudative vitreoretinopathy

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