Application of Metagenomic Deep Sequencing (MDS) to Identify an Infectious Etiology for Iridocorneal Endothelial (ICE) Syndrome

Abstract

Purpose : Iridocorneal endothelial (ICE) syndrome is a group of rare ocular conditions that are a
result of abnormal corneal endothelial cells leading to secondary glaucoma, iris distortions, and
corneal edema. The etiology of ICE is unclear although it has been associated with herpes
simplex virus (HSV) and Epstein-Barr Virus (EBV). In this study, we sought to identify an
infectious etiology for ICE using metagenomic RNA sequencing (MDS).

Methods : This study adhered to the tenets of the Declaration of Helsinki. The Institutional
Review Board of the University of California, San Francisco (UCSF) approved the study, and
informed consent was obtained from all patients. Corneal endothelial tissue or aqueous fluid
from patients with ICE was subjected to metagenomic RNA sequencing. MDS is a high-
throughput sequencing approach that has the potential to identify all pathogens in any clinical
sample, including RNA viruses. Sequencing reads were processed and analyzed using an in-
house pipeline.

Results : Samples from two ICE patients were analyzed. MDS was performed on the aqueous
fluid of both patients and the Descemet membrane and endothelial cell tissue from one patient.
Viral pathogens were not identified in any of the samples.

Conclusions : We were unable to identify a viral etiology in the tissues of patients with ICE,
although this study was limited by sample size.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.