Fuchs’ dystrophy, also known as Fuchs endothelial corneal dystrophy (FECD), is a condition that affects the cornea, which is the clear cover over the front of the eye. The condition causes swelling of the cornea, leading to glare, blurry vision, and sensitivity to light. Fuchs’ dystrophy can also cause tiny painful blisters on the cornea. Most cases are mild and do not cause a major change to a person’s vision. However, in advanced cases, affected people may eventually lose their vision completely. In these cases, a corneal transplant is the only option to improve vision.
Fuchs’ dystrophy occurs when the cells that protect the cornea begin to die off and stop working properly. This situation leads to fluid buildup, swelling, and thickening of the cornea. Risk factors for Fuchs’ dystrophy include gender (being female), age (being over 50 years), and having a family history of the condition. Fuchs’ dystrophy can be inherited, but the genetics of the disease are unclear. Some cases of Fuchs’ dystrophy are caused by a change (mutation) in the COL8A2 gene, which provides instructions for the body to produce a protein that helps protect the cornea (collagen). Cases that are caused by mutations in the COL8A2 gene are inherited in an autosomal dominant pattern. This means a mutation in one of the two COL8A2 copies a person has is enough to cause the condition.
Fuchs’ dystrophy is typically diagnosed by an eye doctor (ophthalmologist) during a detailed eye exam. There is currently no cure for Fuch's Dystrophy, but there are medical treatments, such as medications and soft contact lenses, that can help reduce glare, and relieve pain. Surgical procedures can be used to treat advanced Fuch’s dystrophy. If you have been diagnosed with Fuchs’ dystrophy, talk with your doctor about all current treatment options. Support groups can provide additional information and connect you with other families affected by Fuchs’ dystrophy.