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Updated: Jan 22, 2026

Assessing Early Stage Open-Angle Glaucoma in Patients by Isolated-Check Visual Evoked Potential
Published on: May 25, 2020
[Analysis of MYOC gene variants among sporadic patients with primary open-angle glaucoma]
Xiaohuan Zhang1, Dingding Zhang, Lulin Huang
1School of Clinical Medicine, Southwest Medical University, Luzhou, Sichuan 646000, China. zliny@yahoo.com.
Objective:
To screen for MYOC gene variants among sporadic patients with primary open angle glaucoma (POAG).
Methods:
For 398 patients with POAG, Sanger sequencing was applied to detect potential variants of the MYOC gene.
Results:
Eight patients (2.0%) were found to harbor variations of the MYOC gene. These included five types of variants, among which c.667C>T (p.Pro223Ser) and c.1138G>T (p.Asp380Tyr) were novel. c.382C>T (p.Arg128Trp), c.1109C>T(p.Pro370Leu) and c.1130C>A (p.Thr377Lys) were previously associated with POAG. Alignment of amino acid sequences of MYOC proteins of various species revealed that the two novel variants have occurred at highly conserved positions. c.1138G>T was predicted to be possible pathogenic by Bioinformatic analysis.
Conclusion:
Two novel variants of the MYOC gene were detected among sporadic POAG patients, which enriched its variant spectrum.
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