Genes predispose to severe #AK

In this paper Carnt et al, investigated 58 gene single nucleotide polymorphisms (SNPS) across 18 genes thought to be important in ocular surface defense and inflammatory pathways, in 105 patients with contact lens associated Acanthamoeba keratitis (AK). They found that patients with SNPs in genes of key defense antimicrobial peptide (Toll Like Receptor 4, TLR-4) and inflammatory cytokines, Interleukin (IL)-8 and IL-1β  IL-22, IL-23R were more prone to developing severe inflammatory complications (SICs).  IL-1β, IL-22 and IL-23R are associated with the Th-17 pathway, which is thought to bridge the innate and adaptive immune responses, while TLR-4 and IL-8 are part of the innate immune response.

The distribution of outcomes of AK is bimodal with over 30% experiencing SICs, such as painful scleritis and the classic immune ring infiltrate response. While AK is misdiagnosed as Herpes Simplex Keratitis in arounds 50% of cases, some patients are diagnosed early and have appropriate treatment, yet they still experience the debilitating SICs. The findings of this study indicate that genetic screening to identify susceptible patients to SICs could assist clinicians manage severe AK disease.

Nicole completed this research as part of NHMRC CJ Martin Research Fellowship at Moorfields Eye Hospital, London 2012-2015. This fellowship was awarded immediately following Nicole’s PhD at SOVS. In her PhD she published two papers that were among the first to show that some patients with bacterial keratitis were predisposed to developing infection and more severe forms of disease due to their immune pathway genetics.

See here for full paper: