Molecular genetics of inherited normal tension glaucoma.

Publisher: Medknow Publications Country of Publication: India NLM ID: 0405376 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1998-3689 (Electronic) Linking ISSN: 03014738 NLM ISO Abbreviation: Indian J Ophthalmol Subsets: MEDLINE

Publication: Mumbai : Medknow Publications
Original Publication: Bombay : All-India Ophthalmological Society

Low Tension Glaucoma*/genetics ; Low Tension Glaucoma*/physiopathology ; Low Tension Glaucoma*/metabolism ; Intraocular Pressure*/physiology ; Mutation* ; Eye Proteins*/genetics ; Eye Proteins*/metabolism ; Genetic Predisposition to Disease*; Humans ; Cytoskeletal Proteins/genetics ; Cytoskeletal Proteins/metabolism ; Molecular Biology/methods ; Membrane Transport Proteins/genetics ; Transcription Factor TFIIIA/genetics ; Cell Cycle Proteins ; Glycoproteins/genetics ; Glycoproteins/metabolism ; Animals

Normal tension glaucoma (NTG) is a complex optic neuropathy characterized by progressive retinal ganglion cell death and glaucomatous visual field loss, despite normal intraocular pressure (IOP). This condition poses a unique clinical challenge due to the absence of elevated IOP, a major risk factor in typical glaucoma. Recent research indicates that up to 21% of NTG patients have a family history of glaucoma, suggesting a genetic predisposition. In this comprehensive review using PubMed studies from January 1990 to December 2023, our focus delves into the genetic basis of autosomal dominant NTG, the only known form of inheritance for glaucoma. Specifically exploring optineurin ( OPTN ), TANK binding kinase 1 ( TBK1 ), methyltransferase-like 23 ( METTL23 ), and myocilin ( MYOC ) mutations, we summarize their clinical manifestations, mutant protein behaviors, relevant animal models, and potential therapeutic pathways. This exploration aims to illuminate the intricate pathogenesis of NTG, unraveling the contribution of these genetic components to its complex development.
(Copyright © 2024 Copyright: © 2024 Indian Journal of Ophthalmology.)

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0 (Eye Proteins)
0 (trabecular meshwork-induced glucocorticoid response protein)
0 (OPTN protein, human)
0 (Cytoskeletal Proteins)
0 (Membrane Transport Proteins)
0 (Transcription Factor TFIIIA)
0 (Cell Cycle Proteins)
0 (Glycoproteins)

Date Created: 20240223 Date Completed: 20250508 Latest Revision: 20250508

20250509

PMC467016

10.4103/IJO.IJO_3204_23

38389252