MPDZ, a gene with diverse functions mediating cell–cell junction interactions, receptor
signaling, and binding multivalent scaffold proteins, is associated with a spectrum of …

The cornea, the eye's outermost layer, protects the eye from the environment. The cornea's
innermost layer is an endothelium separating the stromal layer from the aqueous humor. A …

Purpose: To elucidate the molecular events in solute carrier family 4 member 11 (SLC4A11)-
deficient corneal endothelium that lead to the endothelial dysfunction that characterizes the …

Background Congenital hereditary endothelial dystrophy (CHED) is a rare form of corneal
dystrophy caused by SLC4A11 gene variations. This study aims to find the genetic …

Mutations in the solute linked carrier family 4 member 11 (SLC4A11) gene are associated
with congenital hereditary endothelial dystrophy (CHED) and Fuchs corneal endothelial …

Abstract SLC4A11 is a H+/NH3/water transport protein, of corneal endothelial cells.
SLC4A11 mutations cause congenital hereditary endothelial dystrophy and some cases of …

Autosomal recessive congenital hereditary endothelial dystrophy (CHED2) may be
misdiagnosed as primary congenital glaucoma (PCG) due to similar clinical phenotypes …

Background Congenital hereditary endothelial dystrophy (CHED) is a rare genetic disease
of the corneal endothelium with a very early onset of bilateral corneal edema due to …

Purpose To identify inherited or acquired mutations in the VSX1, SOD1, TIMP3 and LOX
genes from the combined analysis of corneal and blood samples from patients with …

Congenital hereditary endothelial dystrophy (CHED) is a rare genetic corneal disorder
causing progressive cornea clouding and significant visual impairment. CHED remains a …