Two blinding corneal dystrophies, pediatric-onset congenital hereditary endothelial
dystrophy (CHED) and some cases of late-onset Fuchs endothelial corneal dystrophy …

SLC4A11, a member of the SLC4 family of bicarbonate transporters, is a widely expressed
integral membrane protein, abundant in kidney and cornea. Mutations of SLC4A11 cause …

SLC4A11 mutations cause cases of congenital hereditary endothelial dystrophy (CHED),
Harboyan syndrome (HS), and Fuchs endothelial corneal dystrophy (FECD). Defective water …

Purpose: Protein misfolding, causing retention of nascent protein in the endoplasmic
reticulum (ER), is the most common molecular phenotype for disease alleles of membrane …

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 …

We studied the structural effects of point mutations of a membrane protein that cause genetic
disease. SLC4A11 is a membrane transport protein (OH−/H+/NH3/H2O) of basolateral …

Large cytoplasmic domains (CD) are a common feature among integral membrane proteins.
In virtually all cases, these CD have a function (eg, binding cytoskeleton or regulatory …

Background: Congenital hereditary endothelial dystrophy (CHED) is a genetic disorder of
corneal endothelial cells resulting in corneal clouding and visual impairment. Autosomal …

Purpose: To describe 2 cases of congenital corneal endothelial edema resulting from novel
de novo mutations. Methods: Case A patient was a 15-month-old white child and case B …

Method Two investigators conducted the literature search and data extraction independently
from November 2020 to January 2021 using SLC4A11 and congenital hereditary …