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Review Open Access

Updates on the molecular genetics of primary congenital glaucoma (Review)

  • Authors:
    • Chen Ling
    • Dingding Zhang
    • Jing Zhang
    • Huanxin Sun
    • Qiu Du
    • Xuefei Li
  • View Affiliations / Copyright

    Affiliations: Sichuan Provincial Key Laboratory for Genetic Disease, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 611731, P.R. China, Department of Thoracic Surgery, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan 611731, P.R. China, Department of Immunology, North Sichuan Medical College, Nanchong, Sichuan 637100, P.R. China, College of Medical Technology, Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan 610072, P.R. China
    Copyright: © Ling et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 968-977
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    Published online on: May 18, 2020
       https://doi.org/10.3892/etm.2020.8767
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Abstract

Primary congenital glaucoma (PCG) is one of the primary causes of blindness in children and is characterized by congenital trabecular meshwork and anterior chamber angle dysplasia. While being a rare condition, PCG severely impairs the quality of life of affected patients. However, the pathogenesis of PCG remains to be fully elucidated. It has previously been indicated that genetic factors serve a critical role in the pathogenesis of PCG, although patients with PCG exhibit significant genetic heterogeneity. Mutations in the cytochrome P450 family 1 subfamily B member 1 gene have been implicated in PCG and further genes that have been reported to be involved in PCG are myocilin, forkhead box C1, collagen type I α1 chain and latent transforming growth factor β binding protein 2. The present review aims to provide an up to date understanding of the genes associated with PCG and the use of molecular technologies in the identification of such genes and mutations. This may pave the way for the development of preventative methods, early diagnosis and improved therapeutic strategies in PCG.
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Copy and paste a formatted citation
Spandidos Publications style
Ling C, Zhang D, Zhang J, Sun H, Du Q and Li X: Updates on the molecular genetics of primary congenital glaucoma (Review). Exp Ther Med 20: 968-977, 2020.
APA
Ling, C., Zhang, D., Zhang, J., Sun, H., Du, Q., & Li, X. (2020). Updates on the molecular genetics of primary congenital glaucoma (Review). Experimental and Therapeutic Medicine, 20, 968-977. https://doi.org/10.3892/etm.2020.8767
MLA
Ling, C., Zhang, D., Zhang, J., Sun, H., Du, Q., Li, X."Updates on the molecular genetics of primary congenital glaucoma (Review)". Experimental and Therapeutic Medicine 20.2 (2020): 968-977.
Chicago
Ling, C., Zhang, D., Zhang, J., Sun, H., Du, Q., Li, X."Updates on the molecular genetics of primary congenital glaucoma (Review)". Experimental and Therapeutic Medicine 20, no. 2 (2020): 968-977. https://doi.org/10.3892/etm.2020.8767
Copy and paste a formatted citation
x
Spandidos Publications style
Ling C, Zhang D, Zhang J, Sun H, Du Q and Li X: Updates on the molecular genetics of primary congenital glaucoma (Review). Exp Ther Med 20: 968-977, 2020.
APA
Ling, C., Zhang, D., Zhang, J., Sun, H., Du, Q., & Li, X. (2020). Updates on the molecular genetics of primary congenital glaucoma (Review). Experimental and Therapeutic Medicine, 20, 968-977. https://doi.org/10.3892/etm.2020.8767
MLA
Ling, C., Zhang, D., Zhang, J., Sun, H., Du, Q., Li, X."Updates on the molecular genetics of primary congenital glaucoma (Review)". Experimental and Therapeutic Medicine 20.2 (2020): 968-977.
Chicago
Ling, C., Zhang, D., Zhang, J., Sun, H., Du, Q., Li, X."Updates on the molecular genetics of primary congenital glaucoma (Review)". Experimental and Therapeutic Medicine 20, no. 2 (2020): 968-977. https://doi.org/10.3892/etm.2020.8767
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