Benjamin T. Whigham

TL;DR: Surprisingly, the G allele of the major susceptibility variant rs3825942 has consistently been shown in multiple populations to increase the risk of XFG and is found with a strong association with the opposite allele in the South African population.

TL;DR: It is hypothesized that SIX6 risk variants disrupt the development of the neural retina, leading to a reduced number of retinal ganglion cells, thereby increasing the risk of glaucoma-associated vision loss.

TL;DR: Findings support a functional role for the LOXL1-AS1 lncRNA in cellular stress response and suggest that dysregulation of its expression by genetic risk variants plays a key role in XFS pathogenesis.

TL;DR: CYP1B1 mutations are the predominant cause of PCG in the Saudi Arabian population with G61E as the dominant disease-associated allele.

TL;DR: It now appears the strong association between LOXL1 and XFS is due to non-coding variants that have not yet been identified, which might alter LO XL1 expression, which is decreased in the late stages of exfoliation syndrome/glaucoma.