PCMTD1 – Primary Angle-Closure Glaucoma

The current evidence supporting an association between PCMTD1 (HGNC:30483) and primary angle-closure glaucoma (MONDO_0001868) is based on genome‑wide association studies in multi‑patient cohorts. In the PloS One study of 500 patients and 720 controls (PMID:30399154), a SNP (rs1015213) located between PCMTD1 and ST18 was included in the panel of eight genetic loci; however, this marker did not surpass the stringent multiple testing correction applied. Similarly, the Ophthalmology study (804 patients, 943 controls) (PMID:32682838) identified a significant association with another locus (EPDR1) while failing to show robust association for the region harboring PCMTD1. No validated HGVS‐coded variants (e.g. a variant reported as “c.123A>T (p.Lys41Asn)”) were reported for PCMTD1, and there is an absence of segregation data from familial cases.

Additionally, there are no targeted functional studies that have investigated the pathogenic role of PCMTD1 in PACG. Although functional assessment studies in unrelated diseases (such as endometrial cancer) have been performed for PCMTD1, these findings do not offer mechanistic insight into its role in ocular pathology. In summary, the genetic evidence is solely derived from common variant association data with limited functional corroboration. Key take‑home: While PCMTD1 remains a candidate locus in primary angle-closure glaucoma, its clinical utility for diagnostic decision‑making is limited until further robust genetic and functional data emerge.

References

• PloS one • 2018 • Genotype-ocular biometry correlation analysis of eight primary angle closure glaucoma susceptibility loci in a cohort from Northern China PMID:30399154
• Ophthalmology • 2021 • Evaluation of Primary Angle-Closure Glaucoma Susceptibility Loci for Estimating Angle Closure Disease Severity PMID:32682838

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