Doug Chung, Ph.D., from Jules Stein Eye Institute, UCLA was awarded a $65,000 research grant to study an early childhood corneal disorder

Presenting Dr. Chung with the check from Department II in California were Commander, Roger Ross also Grand Senior Warden and Adjutant Michael Sekera

Doug Chung, Ph.D., from Jules Stein Eye Institute, UCLA was awarded a $65,000 research grant to get a better understanding of an inherited disorder in children that currently requires corneal transplantation.

Congenital hereditary endothelial dystrophy (CHED) is an inherited disorder of the corneal endothelium that is present at birth or early childhood and is characterized by corneal opacities, which significantly impair vision. Children affected with CHED often require corneal transplantation, which is currently the only method to treat CHED.

However, the worldwide shortage of donor corneas and postoperative complications present challenges to surgically treating children who are blind from CHED. Therefore, a clearer understanding of disease mechanisms that underlie CHED is needed in an effort to develop alternative treatments (e.g. gene based therapeutics) that will improve patient outcomes and decrease the dependence on donor cornea tissue.

The corneal endothelium is made up of a monolayer of endothelial cells that govern the transport of fluids across the back of the cornea, which is necessary for the maintenance corneal clarity. Mutations in the SLC4A11 gene have been identified in approximately 80% of screened CHED patients. The SLC4A11 gene encodes a membrane transporter that is hypothesized to be essential for corneal endothelial pump function, and potentially for other cellular functions.

As such, to better understand how mutations in SLC4A11 cause CHED, the first aim of this proposal is to elucidate the impact of CHED associated SLC4A11 mutations on various corneal endothelial cell functions. The second aim of this proposal is to examine the feasibility of SLC4A11 gene replacement therapy in treating CHED by determining whether or not introducing exogenous SLC4A11 in cell-based models of CHED will restore normal corneal endothelial cell transcriptional and functional profiles.