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Fuchs' dystrophy is a progressive disease of the cornea, which is the clear, round dome that covers the iris and pupil of the eye. The cornea plays a key role in vision, as it helps to focus the light in the eye to enable clear sharp vision.
Individuals affected by Fuchs’ dystrophy have fewer endothelial cells in the inner layer of the cornea than normal. These cells are important to process the water in the cellular structure of the cornea.
As a result, people with Fuchs’ dystrophy experience inadequate absorption of this fluid, and there can be a build-up of water. This eventually leads to thickening and inflammation of the corneal tissue, which can affect vision. Descemet’s membrane, which involves outgrowths known as guttata in the sub-endothelial cell layer, is also evident in individuals with Fuchs’ dystrophy.
The primary cause of Fuchs’ dystrophy is hereditary, through inheritance of a gene mutation. This genetic susceptibility causes the number of corneal endothelial cells to diminish, thus reducing their ability to process water.
It follows an autosomal dominant inheritance pattern, which means that only one parent needs to be a carrier of the gene in order for a child to have a possibility of inheriting the disease. If one parent is affected by Fuchs’ disease, each child will have a 50% chance of inheriting the gene mutation and the disease.
However, some individuals without a family history of Fuchs’ dystrophy may also be affected, which suggests that other factors may also be involved in causing the condition.
In early stages of the disease, patients may not notice particular symptoms. There may be some swelling of the cornea that affects vision somewhat, which is worse in the morning but improves throughout the day.
The symptoms of Fuchs’ dystrophy often vary in intensity according to the humidity in the air. As the symptoms are linked to fluid build-up in the cornea, they tend to improve in dry climates and worsen on rainy days.
Over time, changes to the corneal cells have the potential to cause visual disturbances that cease to become intermittent and are constantly present. This is due to the development of scar tissue, which can lead to blindness. This progression often occurs gradually over several decades. In some cases, a surgical procedure is required to remove the scar tissue and improve vision.
The treatment of Fuchs’ dystrophy depends on the progression of the condition and the severity of symptoms at the time of diagnosis.
For patients diagnosed in early stages of the disease, annual check-up appointments are usually sufficient to monitor progression and make adequate interventions, if required. Patients diagnosed in the later stages of disease already have some changes in vision. They usually require more frequent checkups and complex treatment regimens.
As it is not possible to cure the disease, the treatment of the condition focuses on symptomatic management of visual changes and pain. This may include the collection of fluid or the use of medical ointments, drops or contact lenses applied to the eyes. In severe cases, a surgical procedure such as a corneal transplant may be recommended.