Li Z, et al. - In this whole-exome sequencing case-control study involving 20,441 candidates, experts aspired to explore whether exfoliation syndrome, a systemic disorder characterized by progressive accumulation of abnormal fibrillar protein aggregates manifesting clinically in the anterior chamber of the eye, is correlated with rare, protein-changing variants predicted to impair protein function. The presence of exfoliation syndrome was significantly linked to carriage of functionally deficient CYP39A1 sequence variants. Further research is required to understand the clinical implications of these findings.