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Bulgarian Review of Ophthalmology

Familial exudative vitreoretinopathy. Case reports

N. Veleva, G. Dimitrova, A. Oscar, P. Kemilev, V. Chernodrinska

Abstract

Familial exudative vitreoretinopathy (FEVR) is a rare genetic and clinically heterogeneous disease, due to a disorder of the vascular differentiation leading to incomplete vascularisation of the peripheral retina. FEVR resembles ROP changes but has clear family predisposition and no history of prematurity or/and oxygen therapy. Patient and interfamily asymmetry of the retinal disorders is specific for FEVR. We report two cases of this rare condition.


Keywords

Familial exudative vitreoretinopathy; peripheral retinal avascularization; congenital and hereditary vitreoretinopathies

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References

Димитрова Г, Доков С. Рядко срещана наследствена ретинопатия, наподобяваща ретинопатия на недоносеното. Български Офталмологичен Преглед, 2013 (3), 20-23

Ashton N, Ward B, Serpell G. Effect of oxygen on developing retinal vessels with particular reference to the problem of retrolental fibroplasia. Br J Ophthalmol. 1954;38(7):397- 432.

Aschton, N. Retinal angiogenesis in the human embrio. Br. Med. Bull., 1970; 26: 103-6.

Avery, G.B., Glass, P. Retinopathy of prematurity: progress report. Pediatr. Ann., 1988; 17: 528-33.

Bai Y, Ma J, Guo J, Wang J, Zhu M, Chen Y et al. Müller cell-derived VEGF is a significant contributor to retinal neovascularization. J Pathol 2009;219: 446-454.

Benson WE. Familial exudative vitreoretinopathy. Trans Am Ophthalmol Soc1995; 93: 473-521.

Chen J, Smith LE. Retinopathy of prematurity. Angiogenesis 2007; 10: 133-140.

Chen ZY, Battinelli EM, Fielder A, Bundey S, Sims K, Breakefield XO et al. A mutation in the Norrie disease gene (NDP) associated with Xlinked familial exudative vitreoretinopathy. Nat Genet 1993; 5: 180-183

Collin RW, Nikopoulos K, Dona M, Gilissen C, Hoischen A, Boonstra FN et al. ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proc Natl Acad Sci USA 2013; 110: 9856-9861.

Criswick VG, Schepens CL. Familial exudative vitreoretinopathy. Am J Ophthalmol 1969; 68: 578-594.

Gilmour DF. Familial exudative vitreoretinopathy and related retinopathies. Eye , 2015 29, 1-14.

Gow J, Oliver GL. Familial exudative vitreoretinopathy. An expanded view.Arch Ophthalmol 1971; 86: 150-155.

Hartnett MA. Pediatric Retina. Second Edition, 2014, Lippincot Williams&Wilkins/ Wolters Kluwer

Heidary G, Vanderveen D, Smith LE. Retinopathy of prematurity: current concepts in molecular pathogenesis. Semin Ophthalmol 2009; 24: 77-81.

Hughes S, Yang H, Chan-Ling T. Vascularization of the human fetal retina: roles of vasculogenesis and angiogenesis. Invest Ophthalmol Vis Sci 2000;41: 1217-1228.

Laqua H. Familial exudative vitreoretinopathy. Albrecht Von Graefes Arch Klin Exp Ophthalmol 1980; 213: 121-133.

Lin KL, Hirose T, Kroll AJ, Lou PL, Ryan EA. Prospects for treatment of pediatric vitreoretinal diseases with vascular endothelial growth factor inhibition. Semin Ophthalmol 2009; 24: 70-76.

Miyakubo H, Hashimoto K, Miyakubo S. Retinal vascular pattern in familial exudative vitreoretinopathy. Ophthalmology 1984; 91: 1524-1530.

Musada G, Jalali S Anjli Hussain A et al.Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR. Mol Vis. 2016; 22: 491-502.

Nikopoulos K, Gilissen C, Hoischen A, CEv Nouhuys, Boonstra FN, Blokland EA et al. Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.Am J Hum Genet 2010; 86: 240-247.

Nikopoulos K, Venselaar H, Collin RW, Riveiro-Alvarez R, Boonstra FN, Hooymans JM et al. Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. Hum Mutat 2010; 31: 656-666.

van Nouhuys CE. Signs, complications, and platelet aggregation in familial exudative vitreoretinopathy. Am J Ophthalmol 1991; 111: 34-41.

Pefkianaki M, Hasanreisoglu M, Suchy SF, Shields CL. Familial Exudative Vitreoretinopathy With a Novel LRP5 Mutation. J Pediatr Ophthalmol Strabismus. 2016 Jul 30;53:e39-42. doi: 10.3928/01913913 20160719-02.

Pendergast SD, Trese MT. Familial exudative vitreoretinopathy. Results of surgical management. Ophthalmology 1998; 105: 1015- 1023.

Pau MS, Gao S, Malbon CC, Wang HY, Bertalovitz AC.The Intracellular Loop 2 F328S Frizzled-4 Mutation Implicated in FEVR Impairs Dishevelled Recruitment. J Mol Signal. 2015 Nov 24;10:5

Poulter JA, Ali M, Gilmour DF, Rice A, Kondo H, Hayashi K et al. Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. Am J Hum Genet 2010; 86: 248-253.

Rivera JC, Sapieha P, Joyal JS, et al. Understanding retinopathy of prematurity: update on pathogenesis. Neonatology 2011; 100: 343-353.

Robitaille J, MacDonald ML, Kaykas A, Sheldahl LC, Zeisler J, Dubé M et al. Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat Genet 2002; 32: 326-330.

Salvo J, Lyubasyuk V, Xu M, Wang H, Wang F, Nguyen D, Wang K, Luo H, Wen C, Shi C, Lin D, Zhang K, Chen R. Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients. Invest Ophthalmol Vis Sci. 2015;56:1937-46.

Schulman J, Jampol LM, Schwartz H. Periferal proliferative vitreretinopathy in fullterm infant. Am J Ophthalmol 1980;90:509-514.

Shukla D, Singh J, Sudheer G, Soman M, John RK, Ramasamy K et al. Familial exudative vitreoretinopathy (FEVR). Clinical profile and management. Indian J Ophthalmol 2003; 51: 323-328.

Stone J, Itin A, Alon T, Pe'er J, Gnessin H, Chan-Ling T et al. Development of retinal vasculature is mediated by hypoxia-induced vascular endothelial growth factor (VEGF) expression by neuroglia. J Neurosci 1995; 15: 4738-4747.

Terry TL. Extreme prematurity and fibroblastic overgrowth of persistent vascular sheath behind each crystalline lens. Am J Ophthalmol 1942;25:203-204.

Toomes C, Bottomley HM, Jackson RM, Towns KV, Scott S, Mackey DA et al. Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet 2004; 74: 721-730.

Wang Y, Rattner A, Zhou Y, Williams J, Smallwood PM, Nathans J. Norrin/Frizzled4 signaling in retinal vascular development and blood brain barrier plasticity. Cell 2012; 151: 1332-1344.

Yamane T, Yokoi T, Nakayama Y, Nishina S, Azuma N.Surgical outcomes of progressive tractional retinal detachment associated with familial exudative vitreoretinopathy. Am J Ophthalmol. 2014 Nov;158(5):1049-55.

Yonekawa Y, Wu WC, Kusaka S et al Immediate Sequential Bilateral Pediatric Vitreoretinal Surgery: An International Multicenter Study. Ophthalmology. 2016 Aug;123(8):1802-8.




DOI: http://dx.doi.org/10.14748/bro.v0i1.4520

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About The Authors

N. Veleva
Department of Ophthalmology - Medical University, Sofia Eye Clinic - UH `Alexandrovska`, Sofia
Bulgaria

G. Dimitrova
Department of Ophthalmology - Medical University, Sofia Eye Clinic - UH `Alexandrovska`, Sofia
Bulgaria

A. Oscar
Department of Ophthalmology - Medical University, Sofia Eye Clinic - UH `Alexandrovska`, Sofia
Bulgaria

P. Kemilev
Department of Ophthalmology - Medical University, Sofia Eye Clinic - UH `Alexandrovska`, Sofia
Bulgaria

V. Chernodrinska
Department of Ophthalmology - Medical University, Sofia Eye Clinic - UH `Alexandrovska`, Sofia
Bulgaria

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