Ophthalmology in China

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New concepts to explore the pathogenesis and pathogenic genes of primary angle-closure glaucoma

Yu Xiaowei, Yang Xue, Zhao Zhenni, Fan Zhigang   

  1. State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China
  • Received:2020-04-19 Online:2020-07-22 Published:2020-07-21
  • Contact: Fan Zhigang, Email: fanzhg3@mail.sysu.edu.cn
  • Supported by:
    Guangzhou Science and Technology Plan Project(201903010065); Zhongshan Eye Center of Sun Yat-sen University Project (3030902113080); Guangdong Natural Science Foundation (2020A151501168)

Abstract:  Primary angle-closure glaucoma (PACG) is a group of complex polygenic and heterogeneous diseases, the essential pathogenesis of which is mechanical obstruction of trabecular meshwork by peripheral iris secondary to various etiologies. Clinically, the incidence of primary open-angle glaucoma (POAG) complicated by narrow angle and progressive synechia angle closure is not uncommon. If we do not deliberately scrutinize these clinical cases from the dynamic course of disease development, a confusion of clinical and basic research object could be made, which is probably an important reason that restricts the clinical and genetic studies of PACG pathogenesis due to an impure contamination of enrolled cases. From a molecular perspective, the mechanisms of anatomical angle closure can be categorized into regulation of development in ocular axial, regulation ofdevelopmentin anterior chamber angle structures, including lens and lens zonules and regulation of development in retina-choroid-sclera complex. Current studies reveal that genes which may affect the structure and development of the iris-ciliary body-lens zonules-lens are CHAT, PLEKHA7 and FEPMT2; genes that may affect the development of retina-choroid-sclera complex are TMEM98, CRB and BEST1 and genes thatmay affect ocular axial are MFRP, ABCC5, PRSS56, MMP9, NOS3 and HSP70. However, the molecular mechanism of these genes associated with the development of POAG is still unclear. Indeed, nanophthalmos can be considered a full disease spectrum of PACG, as it has all phenotypes of various clinical PACG subtypes. Therefore, investigation into the molecular mechanisms of nanophthalmos could work as an entry window into the black house of molecular mechanisms in PACG. Further, a systemic classification of PACG subtypes can be realized through a combination of genetic markers and biometric markers in PACG. (Ophthalmol CHN, 2020, 29: 246-254)

Key words: primary angle-closure glaucoma, pathogenesis, regulation of axial length, genetics