How is the inheritance?
Corneal dystrophies represent a group of different forms of disease, which in turn have different inherited characteristics. Depending on the mutation, they are inherited autosomal dominant, autosomal recessive or X-linked recessive. Affected patients can undergo genetic counseling, which can inform them about treatment and prognosis as well as further inheritance to their children.
Diagnosis
If there is a reduction in transparency in the cornea and clouding occurs simultaneously in both eyes, corneal dystrophy should be considered. The ophthalmologist can examine the cornea by means of a slit-lamp examination and detect possible structural changes or clouding. He can also take a sample during the examination and examine it under an electron microscope. Particularly in patients who have relatives with corneal dystrophy, a regular ophthalmological examination should be carried out in order to diagnose possible corneal dystrophy as early as possible. A molecular test of the genes can also be useful to find out the exact form of the corneal dystrophy.
What are the symptoms of corneal dystrophy?
Many corneal dystrophies cause few or very late symptoms and are often not recognized by patients. Often the diseases are discovered during an ophthalmological examination in physically healthy patients. If symptoms occur, patients often first notice a deterioration in vision.
This deterioration increases over time. The deterioration of vision is often subject to a periodicity. In some forms there are severe visual problems, especially in the morning, but these decrease over the course of the day.In addition, there may be long pauses without symptoms between attacks.
In addition, there is opacity on the cornea, which is not visible at the beginning but can get worse over the years. In corneal dystrophies, which affect particularly superficial parts of the cornea, i.e. the epithelium, etc., the cornea becomes cloudy. In addition, there is the occurrence of severe eye pain.
Treatment/Therapy
The treatment of corneal dystrophies depends on the particular form. Therefore, it is important to diagnose the exact form of corneal dystrophy using molecular tests before starting therapy. Some forms do not require treatment.
In some forms, the administration of dehydrating eye drops or ointments is sufficient, as in map-dot-fingerprint dystrophy or Fuchs endothelial dystrophy. The special eye drops draw fluid from the cornea, which leads to an improvement in vision. In more severe forms of corneal dystrophies, however, in the end only the so-called keratoplasty, i.e. a transplantation of the cornea, can help.
In this procedure, the diseased cornea is replaced by a cornea from a dead donor. Due to the fact that the cornea contains few immunocompetent cells, a rejection reaction occurs relatively rarely. Only in rare cases does an additional immunosuppression with medication become necessary. A transplantation has a good success rate and leads to an improvement in vision in most people.
