155
Views
5
CrossRef citations to date
0
Altmetric
Lens

Characterization of Unique Lens Morphology in a Cohort of Children with Familial Exudative Vitreoretinopathy

, &
Pages 1222-1227 | Received 14 Sep 2019, Accepted 24 Feb 2020, Published online: 13 Mar 2020

References

  • van Nouhuys CE. Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina. Doc Ophthalmol. 1982;54:411–14. doi:10.1007/BF00183127.
  • Tauqeer Z, Yonekawa Y. Familial exudative vitreoretinopathy: pathophysiology, diagnosis, and management. Asia Pac J Ophthalmol. 2018;7:176–82.
  • Xu Y, Zhao PQ. Familial exudative vitreoretinopathy. Chin J Ocul Fundus Dis. 2007;23:375–77.
  • Criswick VG, Schepens CL. Familial exudative vitreoretinopathy. Am J Ophthalmol. 1969;68:578–94. doi:10.1016/0002-9394(69)91237-9.
  • Jiao XD, Ventruto V, Trese MT, Shastry BS, Hejtmancik F. Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5. Am J Hum Genet. 2004;75:878–84. doi:10.1086/425080.
  • Robitaille J, MacDonald ML, Kaykas A, Sheldahl LC, Zeisler J, Dube MP, Zhang LH, Singaraja RR, Guernsey DL, Zheng B, et al. Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat Genet. 2002;32:326–30. doi:10.1038/ng957.
  • Aponte EP, Pulido JS, Ellison JW, Quiram PA, Mohney BG. A novel NDP mutation in an infant with unilateral persistent fetal vasculature and retinal vasculopathy. Ophthalmic Genet. 2009;30:99–102. doi:10.1080/13816810802705755.
  • Yuan M, Ding XY, Yang Y, Liu F, Li JQ, Liang XL, Zhang XZ, Hu A, Li ZJ, Zhan ZY, et al. Clinical features of affected and undetached fellow eyes in patients with FEVR-associated rhegmatogenous retinal detachment. Retina. 2017;37:585–91. doi:10.1097/IAE.0000000000001171.
  • Yuan M, Yang Y, Yan H, Li J, Liu R, Li T, Li Y, Liang X, Ding XY, Lu L. Increased posterior retinal vessels in mild asymptomatic familial exudative vitroretinopathy eyes. Retina. 2016;36:1209–15. doi:10.1097/IAE.0000000000000830.
  • Laqua H. Familial exudative vitreoretinopathy. Graef Arch Clin Exp. 1980;213:121–33. doi:10.1007/BF00413539.
  • Fei P, Yang W, Zhang Q, Jin HY, Li J, Zhao PQ. Surgical management of advanced familial exudative vitreoretinopathy with complications. Retina. 2016;36:1480–85. doi:10.1097/IAE.0000000000000961.
  • Gilmour DF. Familial exudative vitreoretinopathy and related retinopathies. Eye. 2015;29:1–14. doi:10.1038/eye.2014.70.
  • Kashani AH, Rown KT, Chang E, Drenser KA, Capone A, Trese M. Diversity of retinal vascular anomalies in patients with familial exudative vitreoretinopathy. Ophthalol. 2014;121:2220–27. doi:10.1016/j.ophtha.2014.05.029.
  • Gandhi JK, Tollefson TT, Telander DG. Falciform macular folds and chromosome 22q11.2: evidence in support of a locus for familial exudative vitreoretinopathy (FEVR). Ophthalmic Genet. 2014;35:112–16. doi:10.3109/13816810.2013.779382.
  • Yang CI, Chen SN, Yang ML. Excessive myopia and anisometropia associated with familial exudative vitreoretinopathy. Chang Gung Med J. 2002;25:388–92.
  • Benson WE. Familial exudative retinopathy. Trans Am Ophthalmol Soc. 1995;93:473–521.
  • Poulter JA, Ali M, Gilmour DF, Rice A, Kondo H, Hayashi K, Mackey DA, Kearns LS, Ruddle JB, Craig JE, et al. Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. Am J Hum Genet. 2010;86(2):248–53. doi:10.1016/j.ajhg.2010.01.012.
  • Collin RW, Nikopoulos K, Dona M, Gilissen C, Hoischen A, Boonstra FN, Poulter JA, Kondo H, Berger W, Toomes C, et al. ZNF408 is mutated in familial exudative evitreoretinopathy and is crucial for the development of zerafish retinal vasculature. Proc Natl Acad Sci USA. 2013;110(24):9856–61. doi:10.1073/pnas.1220864110.
  • Jones GE, Ostergaard P, Moore AT, Connell FC, Williams D, Quarrell O, Rrady AF, Spier I, Hazan F, Moldovan O, et al. Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations. Eur J Hum Genet. 2014;22:881–87. doi:10.1038/ejhg.2013.263.
  • Birtel J, Gliem M, Mangold E, Tebbe L, Spier L, Müller PL, Holz FG, Neuhaus C, Wolfum U, Bolz HJ, et al. Novel insights into the phenotypical spectrum of KIF11-associated retinopathy, including a new form of retinal ciliopathy. Invest Ophthalmol Vis Sci. 2017;58:3950–59. doi:10.1167/iovs.17-21679.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.