The genetics of Fuchs' corneal dystrophy

Research output: Contribution to journalReview articlepeer-review

Abstract

Fuchs' corneal dystrophy (FCD) is a common late-onset genetic disorder of the corneal endothelium. It causes loss of endothelial cell density and excrescences in the Descemet membrane, eventually progressing to corneal edema, necessitating corneal transplantation. The genetic basis of FCD is complex and heterogeneous, demonstrating variable expressivity and incomplete penetrance. To date, three causal genes, ZEB1, SLC4A11 and LOXHD1, have been identified, representing a small proportion of the total genetic load of FCD. An additional four loci have been localized, including a region on chromosome 18 that is potentially responsible for a large proportion of all FCD cases. The elucidation of the causal genes underlying these loci will begin to clarify the pathogenesis of FCD and pave the way for the emergence of nonsurgical treatments.

Original languageEnglish (US)
Pages (from-to)363-375
Number of pages13
JournalExpert Review of Ophthalmology
Volume7
Issue number4
DOIs
StatePublished - Aug 1 2012

Keywords

  • Descemet membrane
  • FCD
  • Fuchs' corneal dystrophy
  • cornea guttata
  • corneal endothelium
  • epithelial-mesenchymal transition
  • guttae
  • oxidative stress
  • unfolded protein

ASJC Scopus subject areas

  • Biomedical Engineering
  • Ophthalmology
  • Optometry

Fingerprint Dive into the research topics of 'The genetics of Fuchs' corneal dystrophy'. Together they form a unique fingerprint.

Cite this