Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Pediatric Ebola Eye Disease in the PREVAIL (Partnership for Research on Ebola Virus in Liberia) III Longitudinal Cohort Study.

Ophthalmology science·2026

Same author

Unplanned Return to the Operating Room After Keratoplasty.

Cornea·2026

Same author

Intraoperative Peripheral Iridotomy for Endothelial Keratoplasty with a 22-Gauge Needle.

Eye banking and corneal transplantation·2026

Same author

Descemet Membrane Endothelial Keratoplasty in an eye with 33mm axial length.

Eye banking and corneal transplantation·2025

Same author

Feasibility of Descemet membrane endothelial keratoplasty with preloaded and trifolded graft after 96-hour storage and shipping.

Eye banking and corneal transplantation·2025

Same author

Pluripotent Stem Cell-Derived Corneal Endothelial Cells Form a Functional Corneal Endothelium in Canines.

Translational vision science & technology·2025

Same journal

Artificial intelligence-driven multi-omics analysis of gut-kidney axis in chronic kidney disease.

Progress in molecular biology and translational science·2026

Same journal

Artificial intelligence in multi-omics analysis of heart diseases.

Progress in molecular biology and translational science·2026

Same journal

AI in multi-omics analysis of type 2 diabetes.

Progress in molecular biology and translational science·2026

Same journal

AI in multi-omics analysis in AMR.

Progress in molecular biology and translational science·2026

Same journal

AI in multi-omics analysis of COVID-19 patient data.

Progress in molecular biology and translational science·2026

Same journal

AI in multi-omics analysis of liver diseases.

Progress in molecular biology and translational science·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Apr 5, 2026

A Human Corneal Organ Culture Model of Descemet's Stripping Only with Accelerated Healing Stimulated by Engineered Fibroblast Growth Factor 1

A Human Corneal Organ Culture Model of Descemet's Stripping Only with Accelerated Healing Stimulated by Engineered Fibroblast Growth Factor 1

Published on: July 22, 2022

Fuchs Corneal Dystrophy.

Allen O Eghrari¹, S Amer Riazuddin¹, John D Gottsch¹

¹Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Progress in Molecular Biology and Translational Science

|August 28, 2015

Summary

This summary is machine-generated.

Fuchs corneal dystrophy (FCD) is a genetic eye disease affecting the cornea. Research identifies genetic mutations and pathway dysregulation, offering insights into its complex pathogenesis.

Keywords:

FCD Fuchs corneal dystrophy TCF4

More Related Videos

Establishing a Severe Corneal Inflammation Model in Rats Based on Corneal Epithelium Curettage Combined with Corneal Sutures

Establishing a Severe Corneal Inflammation Model in Rats Based on Corneal Epithelium Curettage Combined with Corneal Sutures

Published on: November 22, 2024

A Method for Lineage Tracing of Corneal Cells Using Multi-color Fluorescent Reporter Mice

A Method for Lineage Tracing of Corneal Cells Using Multi-color Fluorescent Reporter Mice

Published on: December 18, 2015

Related Experiment Videos

Last Updated: Apr 5, 2026

A Human Corneal Organ Culture Model of Descemet's Stripping Only with Accelerated Healing Stimulated by Engineered Fibroblast Growth Factor 1

A Human Corneal Organ Culture Model of Descemet's Stripping Only with Accelerated Healing Stimulated by Engineered Fibroblast Growth Factor 1

Published on: July 22, 2022

Establishing a Severe Corneal Inflammation Model in Rats Based on Corneal Epithelium Curettage Combined with Corneal Sutures

Establishing a Severe Corneal Inflammation Model in Rats Based on Corneal Epithelium Curettage Combined with Corneal Sutures

Published on: November 22, 2024

A Method for Lineage Tracing of Corneal Cells Using Multi-color Fluorescent Reporter Mice

A Method for Lineage Tracing of Corneal Cells Using Multi-color Fluorescent Reporter Mice

Published on: December 18, 2015

Area of Science:

Ophthalmology
Genetics
Molecular Biology

Background:

Fuchs corneal dystrophy (FCD) is a hereditary, progressive posterior corneal disease.
Characterized by Descemet membrane excrescences, endothelial cell loss, and corneal edema.
Secondary effects impact all corneal layers, leading to bullous keratopathy in advanced stages.

Purpose of the Study:

To investigate the genetic basis and molecular pathogenesis of Fuchs corneal dystrophy.
To identify key genes, mutations, and cellular pathways involved in FCD.

Main Methods:

Genetic analysis to identify causal mutations and chromosomal loci.
Investigation of molecular pathways including oxidative stress, apoptosis, and unfolded protein response.

Main Results:

Identified mutations in genes such as TCF8, SLC4A11, LOXHD1, and AGBL1.
A TCF4 trinucleotide repeat strongly correlates with disease status.
Implicated dysregulation in pathways of oxidative stress, apoptosis, EMT, microRNA, mitochondrial genes, and UPR.

Conclusions:

FCD is a complex genetic disorder with multiple contributing genes and pathways.
Understanding these genetic and molecular factors is crucial for FCD pathogenesis.
Further research into these pathways may reveal therapeutic targets for FCD.