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Fuchs' dystrophy

From SNPedia

Fuchs' dystrophy, also known as Fuchs' endothelial dystrophy (FED), Fuchs' corneal dystrophy (FCD), or Fuchs' endothelial corneal dystrophy (FECD), is a slowly progressing corneal dystrophy that usually affects both eyes. Although doctors can often see early signs of Fuchs' dystrophy in people in their 30s and 40s, the disease rarely affects vision until people reach their 50s and 60s. The prevalence of FECD has been estimated at about 4 to 5% among persons over the age of 40 years in the United States. It is a leading cause of corneal transplantation.Wikipedia

The common form of Fuchs' dystrophy is late-onset (generally affecting those older than 50) but there are also early-onset forms. Variations in several genes have been linked to either form, including the following (as categorized by OMIM):

  • FECD1: early-onset, COL8A2 gene-associated
  • FECD2: late-onset, mapping to the ch13pter-q12.13 region
  • FECD3: late-onset, mapping to the ch18q21.2-q21.32 region and most likely TCF4 gene-associated, including these 4 independently associated SNPs:
  • FECD4: late-onset, SLC4A11 gene-associated
  • FECD5: late-onset, mapping to the ch5q33.1-q35.2 region
  • FECD6: late-onset, ZEB-1 gene-associated
  • FECD7: late-onset, mapping to the ch9p24.1-p22.1 region
  • FECD8: late-onset, AGBL1 gene-associated