Emerg Infect Dis
December 2024
Mutations in the solute linked carrier family 4 member 11 (SLC4A11) gene are associated with congenital hereditary endothelial dystrophy (CHED) and Fuchs corneal endothelial dystrophy type 4 (FECD4), both characterized by corneal endothelial cell (CEnC) dysfunction and/or cell loss leading to corneal edema and visual impairment. In this study, we characterize the impact of CHED-/FECD4-associated SLC4A11 mutations on CEnC function and SLC4A11 protein localization by generating and comparing human CEnC (hCEnC) lines expressing wild type SLC4A11 (SLC4A11WT) or mutant SLC4A11 harboring CHED-/FECD4-associated SLC4A11 mutations (SLC4A11MU). SLC4A11WT and SLC4A11MU hCEnC lines were generated to express either SLC4A11 variant 2 (V2WT and V2MU) or variant 3 (V3WT and V3MU), the two major variants expressed in ex vivo hCEnC.
View Article and Find Full Text PDFCurr Opin Ophthalmol
November 2023
Purpose Of The Review: The purpose of this review is to provide a comprehensive summary of observational studies evaluating anxiety and depression in patients with uveitis.
Recent Findings: A higher prevalence of depression was reported in patients with uveitis compared to healthy controls in most observational studies. Symptoms of anxiety were often, but not always, significantly worse in patients with uveitis compared to controls.
Purpose: To provide the initial confirmation of the c.1772C>T (p.Ser591Phe) mutation in the transforming growth factor--induced ( gene as being associated with variant lattice corneal dystrophy (LCD).
View Article and Find Full Text PDFOphthalmic Surg Lasers Imaging Retina
January 2022
Purpose: The aim of this study was to report the results of screening peroxiredoxin 3 (PRDX3) and PDZ domain-containing protein 8 (PDZD8) in a previously unreported pedigree with punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD) to confirm that the PRDX3 mutation c.568G>C is the genetic basis of PPPCD.
Methods: Ophthalmologic examination of the proband and her affected father was performed with slit lamp biomicroscopy.