Lọc theo danh mục
  • Năm xuất bản
    Xem thêm
  • Lĩnh vực
liên kết website
Lượt truy cập
 Lượt truy cập :  23,784,000
  • Công bố khoa học và công nghệ Việt Nam

Khoa học y, dược

BB

Dương Thu Trang, Đỗ Mạnh Hưng, Đỗ Mạnh Hưng, Dương Thu Trang, Đỗ Mạnh Hưng, Nguyễn Hải Hà(1)*, Nguyễn Minh Phú , Phạm Minh Châu

Tổng quan về bệnh dịch kính - võng mạc xuất tiết có tính chất gia đình

Familial exudative vitreoretinopathy: an overview

Tạp chí Khoa học và Công nghệ Việt Nam - B

2022

7B

1

Bệnh dịch kính - võng mạc xuất tiết có tính chất gia đình (Familial exudative vitreoretinopathy - FEVR) là một rối loạn di truyền hiếm gặp, đặc trưng bởi sự phát triển bất thường của mạch máu võng mạc. Đặc điểm điển hình của mắt bị bệnh là vùng vô mạch ở võng mạc chu biên, tùy vào mức độ nghiêm trọng có thể dẫn đến các biến chứng đe dọa thị lực. Những tổn thương nhãn cầu của FEVR tương tự như bệnh võng mạc do sinh non, tuy nhiên hầu hết bệnh nhân FEVR đều sinh đủ tháng.

Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder, characterised by the abnormal development of retinal blood vessels. FEVR is marked by an avascular peripheral retina, which may give rise to a range of sight-threatening complications depending on the severity of the disease. FEVR and retinopathy of prematurity almost share the same ocular manifestations, but most FEVR cases are full-term.

  • [1] T. Yamane, et al. (2014), Surgical outcomes of progressive tractional retinal detachment associated with familial exudative vitreoretinopathy,American Journal of Ophthalmology
  • [2] H. Kondo, et al. (2016), Mutations in ATOH7 gene in patients with nonsyndromic congenital retinal nonattachment and familial exudative vitreoretinopathy,Ophthalmic Genetics
  • [3] L. Zhang, et al. (2020), Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy,Genetics in Medicine
  • [4] E.S. Panagiotou, et al. (2017), Defects in the cell signaling mediator β-catenin cause the retinal vascular condition FEVR,American Journal of Human Genetics
  • [5] J.A. Poulter, et al. (2010), Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy,American Journal of Human Genetics
  • [6] S.H. Seo, et al. (2015), Molecular c-haracterization of FZD4, LRP5, and TSPAN12 in familial exudative vitreoretinopathy,Investigative Ophthalmology & Visual Science
  • [7] J. Salvo, et al. (2015), Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients,Investigative Ophthalmology & Visual Science
  • [8] J. Lyu (2017), Ultra-wide-field scanning laser ophthalmoscopy assists in the clinical detection and evaluation of asymptomatic early-stage familial exudative vitreoretinopathy,Graefe’s Archive for Clinical and Experimental Ophthalmology
  • [9] A.H. Kashani, et al. (2014), High prevalence of peripheral retinal vascular anomalies in family members of patients with familial exudative vitreoretinopathy,Ophthalmology
  • [10] Z. Tao, et al. (2021), Two AOS genes attributed to familial exudative vitreoretinopathy with microcephaly: two case reports,Medicine
  • [11] J. Birtel, et al. (2017), Novel insights into the phenotypical spectrum of KIF11-associated retinopathy, including a new form of retinal ciliopathy,Investigative Ophthalmology & Visual Science
  • [12] J.H. Wu, et al. (2016), Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy,Human Molecular Genetics
  • [13] H. Clevers (2006), Wnt/β-catenin signaling in development and disease,Cell
  • [14] S.M. Warden, et al. (2007), The Wnt signaling pathway in familial exudative vitreoretinopathy and Norrie disease,Seminars in Ophthalmology
  • [15] M.B. Lai, et al. (2017), TSPAN12 is a norrin co-receptor that amplifies Frizzled4 ligand se-lectivity and signaling,Cell Reports
  • [16] H.J. Junge, et al. (2009), TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/βcatenin signaling,Cell
  • [17] H. Hu, et al. (2016), KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy,British Journal of Ophthalmology
  • [18] D.W. Karjosukarso, et al. (2018), Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly,European Journal of Human Genetics
  • [19] S. Hull, et al. (2019), Clinical and molecular c-haracterization of familial exudative vitreoretinopathy associated with microcephaly,American Journal of Ophthalmology
  • [20] R.G. Coussa, et al. (2020), Novel mutation in CTNNB1 causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature,Ophthalmic Genetics
  • [21] A.H. Kashani, et al. (2014), Diversity of retinal vascular anomalies in patients with familial exudative vitreoretinopathy,Ophthalmology
  • [22] S.D. Pendergast, M.T. Trese (1998), Familial exudative vitreoretinopathy: results of surgical management,Ophthalmology
  • [23] S.H. Seo, et al. (2016), Large deletions of TSPAN12 cause familial exudative vitreoretinopathy (FEVR),Investigative Ophthalmology & Visual Science
  • [24] D.F. Gilmour (2015), Familial exudative vitreoretinopathy and related retinopathies,Eye (London, England)
  • [25] W. Tasman, et al. (1981), Familial exudative vitreoretinopathy,Transactions of the American Ophthalmological Society
  • [26] V.G. Criswick, C.L. Schepens (1969), Familial exudative vitreoretinopathy,American Journal of Ophthalmology