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Related Experiment Video

Updated: Jul 10, 2026

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

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SLC4A11 mutations in Fuchs endothelial corneal dystrophy.

Eranga N Vithana1, Patricio E Morgan, Vedam Ramprasad

  • 1Singapore Eye Research Institute, 11 Third Hospital Avenue, Singapore 168751, Singapore. evithana@yahoo.co.uk

Human Molecular Genetics
|November 21, 2007
PubMed
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Heterozygous mutations in the SLC4A11 gene cause late-onset Fuchs endothelial corneal dystrophy (FECD). This discovery links SLC4A11 gene defects to FECD, impacting corneal endothelial cell viability.

Area of Science:

  • Ophthalmology
  • Genetics
  • Cell Biology

Background:

  • Endothelial (posterior) corneal dystrophies, including Fuchs endothelial corneal dystrophy (FECD), arise from primary endothelial dysfunction.
  • Mutations in the SLC4A11 gene are known to cause recessive congenital hereditary endothelial dystrophy (CHED2).

Purpose of the Study:

  • To investigate the role of heterozygous mutations in the SLC4A11 gene in the pathogenesis of late-onset FECD.
  • To identify specific SLC4A11 mutations associated with FECD and analyze their functional consequences.

Main Methods:

  • Screening of 89 FECD patients for mutations in the SLC4A11 gene.
  • Analysis of mutation conservation, protein localization via immunoblotting, cell surface assays, and confocal immunolocalization.
  • Comparison of identified mutations against ethnically matched controls.

Related Experiment Videos

Last Updated: Jul 10, 2026

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

Main Results:

  • Four heterozygous SLC4A11 mutations (three missense, one deletion) were identified in FECD patients and absent in controls.
  • Missense mutations affected highly conserved amino acid residues, suggesting deleterious effects.
  • Mutant SLC4A11 proteins exhibited defective cell surface localization, indicating impaired function.

Conclusions:

  • Heterozygous SLC4A11 mutations are associated with late-onset FECD.
  • SLC4A11 haploinsufficiency and misfolded protein accumulation may contribute to FECD pathology.
  • Reduced SLC4A11 levels negatively impact the long-term viability of corneal endothelial cells.