Early Transcriptomic and Pathologic Changes of Col8a2 Mutant Fuchs Endothelial Corneal Dystrophy.

ABSTRACT:

Purpose

The purpose of this study was to characterize the early transcriptomic and pathologic changes of Fuchs endothelial corneal dystrophy (FECD) using the Col8a2Q455K/Q455K mutant mouse model.

Methods

The Col8a2Q455K/Q455K mutant mice were divided into the early-stage (≤2-month-old) group and the late-stage (≥8-month-old) group, based on corneal endothelial changes evaluated by slit-lamp microscopy, optical coherence tomography (OCT), and confocal microscopy. The corneal endothelial cells from early-stage mutant and age-matched wild-type (WT) mice were collected for transcriptomic analysis and validated by quantitative PCR and immunofluorescence staining.

Results

The Col8a2Q455K/Q455K mutant mice showed no observable corneal abnormality before 2 months of age. Morp

SUBMITTER: Zhao X 

PROVIDER: S-EPMC12854232 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature