Advanced search
Publication Cover
Ophthalmic Genetics Volume 44, 2023 - Issue 3
Submit an article Journal homepage
192
Views
0
CrossRef citations to date
0
Altmetric
Case Report

Familial exudative vitreoretinopathy (FEVR) in a child with novel microarray-defined deletion of 11q14 previously diagnosed as retinopathy of prematurity (ROP)

Ashley López-Cañizaresa University of Miami Health System Bascom Palmer Eye Institute, Miami, Florida, USA;b Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida, USAView further author information
,
Thomas A. Lazzarinia University of Miami Health System Bascom Palmer Eye Institute, Miami, Florida, USA;b Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida, USAView further author information
,
Carlos Mendozaa University of Miami Health System Bascom Palmer Eye Institute, Miami, Florida, USA;b Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida, USAView further author information
&
Audina M. Berrocala University of Miami Health System Bascom Palmer Eye Institute, Miami, Florida, USA;b Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida, USACorrespondence[email protected]
View further author information
Pages 313-317 | Received 23 Nov 2021, Accepted 14 Aug 2022, Published online: 29 Nov 2022

References

  • Criswick VG, Schepens CL. Familial exudative vitreoretinopathy. Am J Ophthalmol. 1969 Oct 1;68(4):578–94. doi:10.1016/0002-9394(69)91237-9.
  • Toomes C, Bottomley HM, Jackson RM, Towns KV, Scott S, Mackey DA, Craig JE, Jiang L, Yang Z, Trembath R, et al. Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet. 2004 Apr 1;74(4):721–30. doi:10.1086/383202.
  • Nikopoulos K, Venselaar H, Collin RW, Riveiro‐alvarez R, Boonstra FN, Hooymans JM, Mukhopadhyay A, Shears D, van Bers M, de Wijs IJ, 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 Jun;31(6):656–66. doi:10.1002/humu.21250.
  • Wang Y, Zhao R, Dai E, Peng L, He Y, Yang M, Li S. Identification of two novel variants in the LRP5 Gene that cause familial exudative vitreoretinopathy. Genet Test Mol Biomarkers. 2022 Mar 3;26(3):146–51. doi:10.1089/gtmb.2021.0223.
  • Song Z, Li M, Wang C, Wang Y, Zhang L, Li N, Yang R, Sun P. Novel mutation in TSPAN12 associated with familial exudative vitreoretinopathy in a Chinese pedigree. Ophthalmic Genet. 2022 Feb;43(1):104–109. doi:10.1080/13816810.2021.1970193. Epub 2021 Aug 27. PMID: 34445920.
  • Carrera W, Ng C, Desler C, Jumper JM, Agarwal A. Novel FZD4 and LRP5 mutations in a small cohort of patients with familial exudative vitreoretinopathy (FEVR). Ophthalmic Genet. 2021 Mar 4;42(2):200–03. doi:10.1080/13816810.2020.1855664.
  • Bhanot P, Brink M, Samos CH, Hsieh J-C, Wang Y, Macke JP, Andrew D, Nathans J, Nusse R. A new member of the frizzled family from Drosophila functions as a Wingless receptor. Nature. 1996;382(6588):225–30. doi:10.1038/382225a0.
  • Cadigan KM, Nusse R. Wnt signaling: a common theme in animal development. Genes Dev. 1997;11(24):3286–305. doi:10.1101/gad.11.24.3286.
  • Robitaille J, MacDonald ML, Kaykas A, Sheldahl LC, Zeisler J, Dubé M-P, Zhang L-H, Singaraja RR, Guernsey DL, Zheng B. Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat Genet. 2002;32(2):326–30. doi:10.1038/ng957.
  • Xu Q, Wang Y, Dabdoub A, Smallwood PM, Williams J, Woods C, Kelley MW, Jiang L, Tasman W, Zhang K. Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. Cell. 2004;116(6):883–95. doi:10.1016/S0092-8674(04)00216-8.
  • Clevers H. Eyeing up new Wnt pathway players. Cell. 2009;139(2):227–29. doi:10.1016/j.cell.2009.09.027.
  • Caceres L, Prykhozhij SV, Cairns E, Gjerde H, Duff NM, Collett K, Ngo M, Nasrallah GK, McMaster CR, Litvak M, et al. Frizzled 4 regulates ventral blood vessel remodeling in the zebrafish retina. Dev Dyn. 2019;248(12):1243–56. doi:10.1002/dvdy.117).
  • Sachdeva R, Sears JE, Rychwalski PJ. A novel case of bilateral high myopia, cataract, and total retinal detachment associated with interstitial 11q deletion. Ophthalmic Genet. 2010 Jun 1;31(2):84–88. doi:10.3109/13816811003628833.
  • Van Buggenhout GJ, Van Ravenswaaij-Arts C, Maas NM, Thoelen R, Vogels A, Smeets D, Salden I, Matthijs G, Fryns JP, Vermeesch JR. The del (2)(q32. 2q33) deletion syndrome defined by clinical and molecular characterization of four patients. Eur J Med Genet. 2005 Jul 1;48(3):276–89. doi:10.1016/j.ejmg.2005.05.005.
  • Hakeem AH, Mohamed GB, Othman MF. Retinopathy of prematurity: a study of prevalence and risk factors. Middle East Afr J Ophthalmol. 2012 Jul;19(3):289. doi:10.4103/0974-9233.97927.
  • Piñero AM, Sempere J, Nadal J, Elizalde-Montagut J. Vitreorretinopatía exudativa familiar: nuestra experiencia. Archivos de la Sociedad Española de Oftalmología. 2008 Dec;83(12):703–07. doi:10.4321/S0365-66912008001200004.
  • El-Khoury S, Clement A, Chehaibou I, Abdelmassih Y, Edelson C, Metge F, Dureau P, Caputo G. Outcome and risk factors of vitreoretinal surgery in pediatric patients with familial exudative vitreoretinopathy. Graefes Arch Clin Exp Ophthalmol. 2020 Aug;258(8):1617–23. doi:10.1007/s00417-020-04712-w.
  • John VJ, McClintic JI, Hess DJ, Berrocal AM. Retinopathy of prematurity versus familial exudative vitreoretinopathy: report on clinical and angiographic findings. Ophthalmic Surg Lasers Imaging Retina. 2016 Jan 1;47(1):14–19. doi:10.3928/23258160-20151214-02.

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:

Order Reprints Request Corporate Permissions

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:

Request Academic Permissions

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.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.