NIH R01 · 2025
Analysis of chemical modulators for corneal endothelial dystrophies
PROJECT SUMMARY Corneal endothelial dystrophies are a common cause of vision loss and are characterized by a slowly progressive, bilateral dysfunction of the corneal endothelium. The main therapeutic option to restore vision in these patients remains corneal transplantation, as medical management is usually inadequate. Mutations in the SLC4A11 gene are associated with several endothelial dystrophies, including Fuchs endothelial corneal dystrophy (FECD), congenital hereditary endothelial corneal dystrophy (CHED), and Harboyan syndrome. SLC4A11 is a transporter protein that functions to maintain osmotic balance in corneal endothelium, and many point mutations in SLC4A11 found in disease lead…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.