Clinical characteristics and mutation spectrum in 33 Chinese families with familial exudative vitreoretinopathy

References

• Boonstra FN, van Nouhuys CE, Schuil J, et al. Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci. 2009;50(9):4379–4385.
   PubMed Web of Science ®Google Scholar
• Musada GR, Syed H, Jalali S, et al. Mutation spectrum of the FZD-4, TSPAN12 and ZNF408 genes in Indian FEVR patients. BMC Ophthalmol. 2016;16:90.
   PubMed Web of Science ®Google Scholar
• Li JK, Fei P, Li Y, et al. Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis. Sci Rep. 2016;6:26564.
   PubMed Web of Science ®Google Scholar
• Nikopoulos K, Gilissen C, Hoischen A, 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(2):240–247.
   PubMed Web of Science ®Google Scholar
• 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. Proc Natl Acad Sci USA. 2013;110(24):9856–9861.
   PubMed Web of Science ®Google Scholar
• Khan K, Logan CV, McKibbin M, et al. Next generation sequencing identifies mutations in atonal homolog 7 (ATOH7) in families with global eye developmental defects. Hum Mol Genet. 2012;21(4):776–783.
   PubMed Web of Science ®Google Scholar
• Zhang S, Li X, Liu W, et al. Whole-Exome sequencing identified DLG1 as a candidate gene for familial exudative vitreoretinopathy. Genet Test Mol Biomarkers. 2021;25(5):309–316.
   PubMed Web of Science ®Google Scholar
• Downey LM, Keen TJ, Roberts E, et al. A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13. Am J Hum Genet. 2001;68(3):778–781.
   PubMed Web of Science ®Google Scholar
• Yang M, Li S, Huang L, et al. CTNND1 variants cause familial exudative vitreoretinopathy through the wnt/cadherin axis. JCI Insight. 2022;7(14):e158428.
   PubMedGoogle Scholar
• Zhu X, Yang M, Zhao P, et al. Catenin α 1 mutations cause familial exudative vitreoretinopathy by overactivating norrin/β-catenin signaling. J Clin Invest. 2021;131(6):e139869.
   PubMed Web of Science ®Google Scholar
• Li S, Yang M, He Y, et al. Variants in the Wnt co-receptor LRP6 are associated with familial exudative vitreoretinopathy. J Genet Genomics. 2022;49(6):590–594.
   PubMed Web of Science ®Google Scholar
• Wu JH, Liu JH, Ko YC, et al. Haploinsufficiency of RCBTB1 is associated with coats disease and familial exudative vitreoretinopathy. Hum Mol Genet. 2016;25(8):1637–1647.
   PubMed Web of Science ®Google Scholar
• Park H, Yamamoto H, Mohn L, et al. Integrin-linked kinase controls retinal angiogenesis and is linked to wnt signaling and exudative vitreoretinopathy. Nat Commun. 2019;10(1):5243.
   PubMedGoogle Scholar
• Zhang L, Zhang X, Xu H, et al. Exome sequencing revealed notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy. Genet Med. 2020;22(1):77–84.
   PubMed Web of Science ®Google Scholar
• Toomes C, Bottomley HM, Jackson RM, et al. Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet. 2004;74(4):721–730.
   PubMed Web of Science ®Google Scholar
• Chen ZY, Battinelli EM, Fielder A, et al. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. Nat Genet. 1993;5(2):180–183.
   PubMed Web of Science ®Google Scholar
• Robitaille JM, Gillett RM, LeBlanc MA, et al. Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations. JAMA Ophthalmol. 2014;132(12):1393–1399.
   PubMed Web of Science ®Google Scholar
• Coussa RG, Zhao Y, DeBenedictis MJ, et al. Novel mutation in CTNNB1 causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature. Ophthalmic Genet. 2020;41(1):63–68.
   PubMed Web of Science ®Google Scholar
• van der Ende SR, Meyers BS, Capasso JE, et al. Severe familial exudative vitreoretinopathy, congenital hearing loss, and developmental delay in a child with biallelic variants in FZD4. JAMA Ophthalmol. 2022;140(9):889–893.
   PubMed Web of Science ®Google Scholar
• Chen C, Sun L, Li S, et al. The spectrum of genetic mutations in patients with asymptomatic mild familial exudative vitreoretinopathy. Exp Eye Res. 2020;192:107941.
   PubMed Web of Science ®Google Scholar
• Rao FQ, Cai XB, Cheng FF, et al. Mutations in LRP5, FZD4, TSPAN12, NDP, ZNF408, or KIF11 genes account for 38.7% of Chinese patients with familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci. 2017;58(5):2623–2629. 1
   PubMed Web of Science ®Google Scholar
• Salvo J, Lyubasyuk V, Xu M, et al. Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients. Invest Ophthalmol Vis Sci. 2015;56(3):1937–1946.
   PubMed Web of Science ®Google Scholar
• Pendergast SD, Trese MT. Familial exudative vitreoretinopathy. Results of surgical management. Ophthalmology. 1998;105(6):1015–1023.
   PubMed Web of Science ®Google Scholar
• Nagura K, Inoue T, Zhou HP, et al. Association between retinal artery angle and visual function in eyes with idiopathic epiretinal membrane. Transl Vis Sci Technol. 2021;10(9):35.
   PubMed Web of Science ®Google Scholar
• Thomas MG, Kumar A, Mohammad S, et al. Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity? Ophthalmology. 2011;118(8):1653–1660.
   PubMed Web of Science ®Google Scholar
• Wang S, Zhang X, Hu Y, et al. Clinical and genetical features of probands and affected family members with familial exudative vitreoretinopathy in a large Chinese cohort. Br J Ophthalmol. 2021;105(1):83–86.
   PubMed Web of Science ®Google Scholar
• Tauqeer Z, Yonekawa Y, Retina Service, Massachusetts Eye and Ear Infirmary, Harvard Medical School. Familial exudative vitreoretinopathy: pathophysiology, diagnosis, and management. Asia Pac J Ophthalmol (Phila). 2018;7(3):176–182.
   PubMed Web of Science ®Google Scholar
• Lee J, El-Dairi MA, Tran-Viet D, et al. Longitudinal changes in the optic nerve head and retina over time in very young children with familial exudative vitreoretinopathy. Retina. 2019;39(1):98–110.
   PubMed Web of Science ®Google Scholar
• Chen C, Liu C, Wang Z, et al. Optical coherence tomography angiography in familial exudative vitreoretinopathy: clinical features and Phenotype-Genotype correlation. Invest Ophthalmol Vis Sci. 2018;59(15):5726–5734.
   PubMed Web of Science ®Google Scholar
• Vajzovic L, Hendrickson AE, O’Connell RV, et al. Maturation of the human fovea: correlation of spectral-domain optical coherence tomography findings with histology. Am J Ophthalmol. 2012;154(5):779–789.e2.
   PubMed Web of Science ®Google Scholar
• Zhang J, Jiang C, Ruan L, et al. Macular capillary dropout in familial exudative vitreoretinopathy and its relationship with visual acuity and disease progression. Retina. 2020; Jun40(6):1140–1147.
   PubMed Web of Science ®Google Scholar
• Li Y, Peng J, Li J, et al. The characteristics of digenic familial exudative vitreoretinopathy. Graefes Arch Clin Exp Ophthalmol. 2018;256(11):2149–2156.
   PubMed Web of Science ®Google Scholar
• Chen C, Zhang X, Peng X, et al. Lrp5 biallelic mutations cause a higher incidence of severe phenotype compared with lrp5 monoallelic mutation. Retina. 2022;42(10):1958–1964. 1
   PubMed Web of Science ®Google Scholar
• Seo SH, Yu YS, Park SW, et al. Molecular characterization of FZD4, LRP5, and TSPAN12 in familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci. 2015;56(9):5143–5151.
   PubMed Web of Science ®Google Scholar
• Wang Z, Chen C, Sun L, et al. Symmetry of folds in FEVR: a genotype-phenotype correlation study. Exp Eye Res. 2019;186:107720.
   PubMed Web of Science ®Google Scholar
• Chen C, Cheng Y, Zhang Z, et al. Long-term clinical prognosis of 335 infant single-gene positive FEVR cases. BMC Ophthalmol. 2022;22(1):329.
   PubMed Web of Science ®Google Scholar
• Wang Y, Zhang Z, Huang L, et al. Update on the phenotypic and genotypic spectrum of KIF11-Related retinopathy. Genes (Basel). 2022;13(4):713.
   PubMed Web of Science ®Google Scholar
• Fei P, Zhang Q, Huang L, et al. Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy. Mol Vis. 2014;20:395–409.
   PubMed Web of Science ®Google Scholar