<i>METTL23</i> Variants and Patients With Normal-Tension Glaucoma

This investigation provides evidence that pathogenic variants in METTL23 are associated with NTG. Within an NTG cohort at a tertiary care center, pathogenic variants were associated with approximately 1% of NTG cases, a frequency similar to that of other known normal-tension glaucoma genes, including optineurin (OPTN), TANK-binding kinase 1 (TBK1), and myocilin (MYOC). The findings suggest that METTL23 pathogenic variants are likely involved in a biologic pathway that is associated with glaucoma that occurs at lower intraocular pressures.

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Publication Details

Journal
JAMA Ophthalmology
Published
2024-09-26
DOI
https://doi.org/10.1001/jamaophthalmol.2024.3829
Citations
3
Primary Topic
Glaucoma and retinal disorders
Type
article
Field-Weighted Citation Impact
1.62
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article

METTL23 Variants and Patients With Normal-Tension Glaucoma

Erin A. Boese, Todd E. Scheetz, Michael J. Schnieders, John H. Fingert et al.
3 citations
JAMA Ophthalmology
Glaucoma and retinal disorders
1.62
article

METTL23 Variants and Patients With Normal-Tension Glaucoma

Erin A. Boese, Todd E. Scheetz, Michael J. Schnieders, John H. Fingert, Andrew Pouw, Edwin M. Stone, Mallory R. Tollefson, Ben R. Roos
article en
3 citations

Abstract

This investigation provides evidence that pathogenic variants in METTL23 are associated with NTG. Within an NTG cohort at a tertiary care center, pathogenic variants were associated with approximately 1% of NTG cases, a frequency similar to that of other known normal-tension glaucoma genes, including optineurin (OPTN), TANK-binding kinase 1 (TBK1), and myocilin (MYOC). The findings suggest that METTL23 pathogenic variants are likely involved in a biologic pathway that is associated with glaucoma that occurs at lower intraocular pressures.

JAMA OphthalmologyVol. 142(11)
University of Iowa (US)
Good health and well-being
Openalex Percentile: Top 16%
Glaucoma and retinal disorders
1.62
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