<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.
Authors
- Erin A. Boese (ORCID: https://orcid.org/0000-0003-1124-3991)
- Todd E. Scheetz (ORCID: https://orcid.org/0000-0002-1965-5811)
- Michael J. Schnieders (ORCID: https://orcid.org/0000-0003-1260-4592)
- John H. Fingert (ORCID: https://orcid.org/0000-0002-0377-0479)
- Andrew Pouw (ORCID: https://orcid.org/0000-0001-8594-7612)
- Edwin M. Stone (ORCID: https://orcid.org/0000-0003-3343-4414)
- Mallory R. Tollefson
- Ben R. Roos
Institutions
- University of Iowa (US)
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