The Fuchs’ dystrophy is a corneal disease in which the endothelial cells of the inner cornea perish. This reduces the patient’s visual acuity. Eye drops and, in severe cases, surgical corneal transplants can be used for treatment.
What is Fuchs endothelial dystrophy?
According to DEFINITIONEXPLORER, the cornea or cornea corresponds to the crystal-clear, arched part of the eye, wetted by tear fluid, which makes up the front part of the outer eye skin and forms the frontal closure of the eyes. The refractive power of the eyes is largely made possible by the cornea. The clarity and wetting of the cornea is an absolutely necessary prerequisite for any sharp visual impression.
Overall, the human eyes have a refractive power of around 60 D, of which more than 40 are provided by the cornea and the aqueous humor lying behind it. Due to the high relevance of the cornea, corneal diseases have significant consequences for vision. Fuchs endothelial dystrophy is one of the corneal diseases.
The genetic and hereditary disease is also referred to in the medical literature as Fuchs corneal epithelial dystrophy, Fuchs syndrome II, Fuchs Kraupa syndrome or Kraupa syndrome. Seven different forms of the disease are currently distinguished. Fuchs endothelial dystrophy was first described in 1910. The ophthalmologists Ernst Fuchs and Ernst Kraupa are considered to be the first to describe it.
The cause of Fuchs endothelial dystrophy lies in the genes. Familial accumulation was observed in the cases documented so far. For this reason, dystrophy is considered a hereditary disease with an autosomal dominant basis. However, since sporadic cases have also been observed, modern medicine now assumes a polygenetically multifactorial cause of the disease.
The pathogenesis of the disease is relatively well understood. The cornea is equipped with endothelial cells. During the aging process, the endothelial cells on the inside of the patient’s cornea degenerate. In this way, no more water can be pumped out of the cornea and drained into the anterior chamber.
The cornea begins to swell and its membrane stands out from the corneal epithelium. A thickening of the so-called Descemet’s membrane, which is the result of abnormal endothelial cell products, is usually noticeable first. In the form of these processes, the disease usually manifests itself for the first time in the third to fourth decade of life.
Symptoms, ailments & signs
Patients with Fuchs endothelial dystrophy usually do not suffer from symptoms in the early decades of life, although the dystrophy of the endothelial cells has long since begun. The first symptoms usually appear around the age of 35 and correspond to an initially slight decrease in visual acuity. Most of those affected also suffer from increased sensitivity to glare.
Characteristically, these early symptoms improve in the course of the day, as the water can at least partially evaporate when the eyes are open. Symptomatic pain can occur later in the disease. This pain is caused by tears that form on the cornea.
Depending on the age of onset and the genetic basis, medicine now differentiates between different forms of Fuchs endothelial dystrophy, the course of which can differ from one another to a greater or lesser extent. In a large number of all cases, harmless forms are reported which, with the right therapy, do not cause any significant visual impairment.
The diagnosis of Fuchs endothelial dystrophy is made by the ophthalmologist. The anamnesis already gives decisive clues. Confirmation of the endothelial dystrophy confirms the diagnosis. The drainage disorder in the corneal area can also be an important indicator for the diagnosis.
In the case of detailed diagnostics, the doctor uses a family history to determine which type of genetic basis the disease is based on in each individual case. In addition, the age of onset helps him to classify the phenomenon more closely. The prognosis for patients with Fuchs endothelial dystrophy can hardly be generalized. In principle, there are harmless forms of the course, but in individual cases the course can also lead to severe visual loss and thus to a noticeable visual impairment.
In most cases, the complaints, symptoms and complications of Fuchs endothelial dystrophy do not appear until late adulthood, so that the disease initially remains undetected. For this reason, treatment is delayed. As a rule, the patient’s eyesight is affected, which decreases drastically. This can lead to complete blindness.
The patient also suffers from increased sensitivity to light and perceives bright light as painful and uncomfortable. As the disease progresses, more pain and cracks in the cornea can occur. If the Fuchs endothelial dystrophy occurs in a harmless form, there are usually no further complications. The eyesight is also not changed in this case.
Treatment is usually carried out by an ophthalmologist and is mostly without complications. The affected person has to use eye drops. In severe cases, surgical interventions are necessary, which, however, lead to a positive course of the disease. After the treatment, the discomfort in the eyes disappears. Life expectancy is not reduced. In some cases, the discomfort in the eyes can also lead to psychological complaints.
When should you go to the doctor?
Changes in vision must be checked by a doctor at any age. If there is a blurred perception of the immediate surroundings, objects can no longer be recognized and seen as usual or if the existing eyesight deteriorates, a doctor’s visit is necessary.
If there is a headache, if the muscles on the forehead are strained to see or if there is a change in the person’s behavior, a doctor should be consulted. Increased irritability, inner restlessness and an increase in the general risk of accidents are worrying and must be checked by a doctor before there are further complications. If the person concerned notices a strong sensitivity to the effects of light or can confirm that there is an increase in the usual sensitivity, they should discuss this observation with a doctor.
If you experience pain when you see it, if the eyes are unusually dry or if the skin around the eyes is very red, medical treatment should be initiated. In the event of exhaustion, an increased need for sleep or impairment in everyday life due to reduced vision, it is necessary to consult a doctor. If the changes in vision lead to psychological problems or emotional abnormalities, it is advisable to seek help from a therapist.
Treatment & Therapy
A causal therapy is currently not available for patients with Fuchs endothelial dystrophy. Since the cause is to a certain extent a genetic cause, at best advances in gene therapy could open up a causal solution. So far, gene therapy has not reached the clinical phase.
Since gene therapy measures are also associated with increased effort and high stress and the disease usually proceeds rather harmlessly, the risk-benefit assessment would in most cases not be for the therapy measure anyway. Symptomatic therapy options are particularly successful in the case of Fuchs endothelial dystrophy.
For example, eye drops containing salt are used for non-invasive therapy. These drops use the water-attracting properties of salts. The salty liquid removes enough water from the patient’s cornea to sharpen the visual impression again.
If this gentle treatment method does not lead to the desired results, more invasive methods are used. Progressive symptoms can, for example, be an indication for a perforating keratoplasty. In this procedure, patients receive a corneal transplant. Usually the keratoplasty is performed under retrobulbar anesthesia.
An oculopressor and acetazolamide lower the vitreous pressure. The graft is attached to the three, six, nine and 12 o’clock positions using single nylon thread sutures. A diagonal seam according to Hoffmann rounds off the seam technique. With the suture technique, postoperative complications such as thread migration should be avoided.
In principle, the operation takes less than an hour if a specialist performs it. In addition to this invasive treatment, a Descemet Membrane Endothelial Keratoplasty can also be used if the patient does not show any improvement after the drop treatment.
Outlook & forecast
There is no cure for Fuchs endothelial dystrophy. The causes of the disease can partly be traced back to genetic dispositions. Since, for legal reasons, no intervention for the purpose of altering human genetics is allowed, the therapy is limited to symptomatic treatment of the patient’s cornea.
The peculiarity of Fuchs endothelial dystrophy lies in the weighing process between alleviating the symptoms and the risks of treatment. In many cases, the severity of the impairments in everyday life is minimal, so that the possible complications would be more extensive and complex than the existing impairments.
The administration of medication can already improve the eyesight of many patients. After using eye drops containing salt, a large number of those affected report sharper eyesight. As soon as the drug is discontinued, a regression of the optimized vision occurs within a short time. For this reason, long-term therapy is necessary in order to maintain the prospect of relief from the symptoms.
In particularly severe cases, surgery is necessary. This is associated with the usual risks and side effects. The cornea is transplanted with the aim of permanent freedom from symptoms. If the operation is successful, the prognosis is favorable. The eyesight is permanently improved in these patients.
Fuchs endothelial dystrophy has not yet been successfully prevented. On the one hand, genetic factors play a causal role. On the other hand, not all causal factors have yet been clarified.
The options for follow-up care are very limited in the case of Fuchs endothelial dystrophy. Self-healing cannot occur, so that the patient is always dependent on medical treatment. In the worst case, complete blindness can occur, which can no longer be treated.
The life expectancy of the person affected is not reduced by the Fuchs endothelial dystrophy. In many cases, those affected are dependent on the use of eye drops. It is important to ensure that it is used regularly in order to keep the cornea evenly moist.
It is not uncommon for those affected with Fuchs endothelial dystrophy to have to undergo surgery to alleviate the symptoms. The affected person must always rest after the procedure and take care of his body. Avoid exertion or stressful and unnecessary activities.
The eye in particular should be particularly protected in order to accelerate healing. If there is a loss of vision, those affected are often dependent on the help and support of friends and family. Contact with other sufferers of Fuchs endothelial dystrophy can also be useful in order to make everyday life easier.
You can do that yourself
People suffering from Fuchs endothelial dystrophy should avoid unnecessary strain on the eyes. The light influences are to be adapted to the individual needs of the eyes and not too dark or too bright. As the disease progresses, the demands placed on the eyes must be corrected and changed in order to reduce overexertion.
In everyday life, the patient can make sure that he does not try convulsively with the greatest tension to want to see certain visual stimuli sharply. When the eyes and forehead muscles contract, strong pressure is exerted on the eyes, which has a negative impact on wellbeing.
In many cases this leads to an increase in symptoms, as headaches set in and stress builds up. In the event of changes in vision, the patient should always consult a doctor and follow the doctor’s instructions. When eyesight deteriorates, emotional problems often arise.
To deal with Fuchs endothelial dystrophy, it is advisable for the patient to seek psychological support. Concerns and experiences can be exchanged in discussions with a therapist, friends, relatives or also sick people. Fears are reduced and discrepancies can be resolved. The patient has the opportunity to reduce his or her inner stress experience through relaxation procedures. Mental relief often occurs when, for example, yoga is practiced regularly.