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DISEASE STUDIES

Fuchs’ dystrophy

Fuchs’ dystrophy is an eye disease in which the innermost layer of cells in the cornea undergoes degenerative changes. This disorder usually affects both eyes. The cell layer, called the endothelium, is responsible for maintaining the proper amount of fluid in the cornea and as more and more cells are lost, fluid begins to accumulate in the cornea, causing swelling and corneal opacity. Fuchs’ dystrophy affects the thin layer of cells that line the back part of the cornea. These cells help pump excess fluid out of the cornea. As more and more cells are lost, fluid begins to build up in the cornea, causing swelling and a cloudy cornea.

At first, fluid may build up only during sleep, when the eye is closed. As the disease gets worse, small blisters may form. The blisters get bigger and may eventually break, causing eye pain. Fuchs’ dystrophy can also cause the shape of the cornea to change, leading to more vision problems.

GENE OR REGION STUDIED


  • TCF4
  • 18q21.2