GNGT2 – Myopic Macular Degeneration

A large-scale whole exome sequencing study of 51,624 individuals identified novel putative causal variants in several candidate genes, including GNGT2, in association with refractive error phenotypes, one of which is myopic macular degeneration (PMID:35022715). Although the study provided robust statistical power, there is no gene‑specific variant evidence, segregation data (e.g., number of affected probands or families), or detailed phenotypic dissection for GNGT2. The genetic evidence relies on the inclusion of GNGT2 among a group of candidate genes as part of a broader association signal rather than direct observation of Mendelian transmission.

Functional studies to date have not assessed the role of GNGT2 in myopic macular degeneration; existing functional assessments of GNGT2 have been conducted in the context of Alzheimer disease (PMID:35897046), which further underscores the current lack of experimental corroboration for its involvement in ocular pathology. Key take‑home: while GNGT2 emerges as a promising candidate gene for myopic macular degeneration, additional gene‑specific segregation and functional studies are essential to solidify its clinical utility for diagnostic decision‑making.

References

• Human Molecular Genetics • 2022 • Whole exome sequence analysis in 51,624 participants identifies novel genes and variants associated with refractive error and myopi PMID:35022715
• Alzheimer’s Research & Therapy • 2022 • Deletion of Abi3/Gngt2 influences age‑progressive amyloid β and tau pathologies in distinctive ways PMID:35897046

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