Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

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

Conserved host genes act as anchors for fast-evolving piRNA clusters via promoter hijacking.

Research square·2026
Same author

Stress Responsive bZIP Transcription Factors ATF4 and BACH1 Cooperate With MAF-Family bZIP Protein NRL to Fine-Tune Rod Photoreceptor Gene Expression.

Investigative ophthalmology & visual science·2026
Same author

Revisiting retinal and macular degeneration in the genomics era.

Nature reviews. Genetics·2026
Same author

Halofantrine protects photoreceptors in multiple models of retinal degeneration.

Research square·2026
Same author

Asparagus racemosus Root Extract (SheVari4®) Alleviates Menopausal Symptoms in Pre-, Peri-, and Post-menopausal Healthy Women.

Cureus·2026
Same author

Lactate and histone H3K18 lactylation are associated with metabolic control of gene expression in the retina.

PLoS genetics·2026

Related Experiment Video

Updated: May 3, 2026

A Method for Lineage Tracing of Corneal Cells Using Multi-color Fluorescent Reporter Mice
07:48

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

Published on: December 18, 2015

19.3K

E2-2 protein and Fuchs's corneal dystrophy.

Keith H Baratz1, Nirubol Tosakulwong, Euijung Ryu

  • 1Department of Ophthalmology, Mayo Clinic, Rochester, MN, USA.

The New England Journal of Medicine
|September 10, 2010
PubMed
Summary

Genetic variations in the TCF4 gene are strongly linked to Fuchs's corneal dystrophy (FCD), a common cause of corneal transplants. This finding advances understanding of FCD

More Related Videos

A Human Corneal Organ Culture Model of Descemet's Stripping Only with Accelerated Healing Stimulated by Engineered Fibroblast Growth Factor 1
12:36

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

5.1K
Author Spotlight: Improved Lipofuscin Models and Quantification of Outer Segment Phagocytosis Capacity in Highly Polarized Human Retinal Pigment Epithelial Cultures
10:39

Author Spotlight: Improved Lipofuscin Models and Quantification of Outer Segment Phagocytosis Capacity in Highly Polarized Human Retinal Pigment Epithelial Cultures

Published on: April 14, 2023

3.3K

Related Experiment Videos

Last Updated: May 3, 2026

A Method for Lineage Tracing of Corneal Cells Using Multi-color Fluorescent Reporter Mice
07:48

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

Published on: December 18, 2015

19.3K
A Human Corneal Organ Culture Model of Descemet's Stripping Only with Accelerated Healing Stimulated by Engineered Fibroblast Growth Factor 1
12:36

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

5.1K
Author Spotlight: Improved Lipofuscin Models and Quantification of Outer Segment Phagocytosis Capacity in Highly Polarized Human Retinal Pigment Epithelial Cultures
10:39

Author Spotlight: Improved Lipofuscin Models and Quantification of Outer Segment Phagocytosis Capacity in Highly Polarized Human Retinal Pigment Epithelial Cultures

Published on: April 14, 2023

3.3K

Area of Science:

  • Ophthalmology
  • Genetics
  • Corneal Diseases

Background:

  • Fuchs's corneal dystrophy (FCD) affects over 5% of Americans over 40, leading to corneal transplantation.
  • Characterized by endothelial cell loss and abnormal extracellular matrix deposition, FCD causes corneal clouding in advanced stages.
  • While rare genetic variations are known, common variants contributing to FCD have not been previously reported.

Purpose of the Study:

  • To identify common genetic variants associated with typical late-onset Fuchs's corneal dystrophy.
  • To investigate the genetic underpinnings of FCD through a large-scale association study.

Main Methods:

  • A genomewide association study (GWAS) was conducted to identify genetic risk factors for FCD.
  • Significant findings from the GWAS were replicated in an independent cohort of subjects.

Main Results:

  • Strong association found between alleles in the transcription factor 4 gene (TCF4) and typical FCD (P=2.3x10(-26)).
  • Individuals with two copies of TCF4 disease variants had 30 times higher odds of FCD and were correctly classified with 76% accuracy.
  • Independent associations with FCD were identified within at least two regions of the TCF4 locus.
  • A weaker association was observed with alleles in the PTPRG gene (P=4.0x10(-7)), though it did not reach genomewide significance.

Conclusions:

  • Genetic variations within the TCF4 gene are a significant contributor to the development of Fuchs's corneal dystrophy.
  • This study identifies TCF4 as a key gene implicated in the etiology of FCD.