Fuchs endothelial dystrophy is a corneal disease in which the endothelial cells of the inner cornea perish. As a result, patients’ visual acuity decreases. Treatment options include eye drops and, for severe cases, surgical corneal transplants.
What is Fuchs endothelial dystrophy?
The cornea, or cornea, corresponds to the vitreous portion of the eye that is wetted by tears, is convex, and makes up the anterior portion of the outer membranes of the eye and forms the frontal closure of the eyes. The eyes’ ability to refract light is made possible in large part by the cornea. The clarity and wetting of the cornea is a mandatory requirement for any sharp visual impression. In total, human eyes have a refractive power of about 60 dpt, of which more than 40 are provided by the cornea and the aqueous humor behind it. Due to the high relevance of the cornea, corneal diseases have significant consequences for the ability to see. One of the corneal diseases is Fuchs endothelial dystrophy. The genetic and hereditary disease is also called Fuchs corneal endothelial dystrophy, Fuchs syndrome-II, Fuchs-Kraupa syndrome or Kraupa syndrome in the medical literature. Seven different forms of the disease are currently distinguished. Fuchs endothelial dystrophy was first described in 1910, and ophthalmologists Ernst Fuchs and Ernst Kraupa are considered the first to describe it.
Causes
The cause of Fuchs endothelial dystrophy is in the genes. Familial clustering has been observed in the cases documented to date. For this reason, the dystrophy is considered a hereditary disease with an autosomal dominant basis. However, since sporadic cases have also been observed, modern medicine now assumes a polygenetic multifactorial cause of the disease. The pathogenesis of the disease is relatively well understood. The cornea is endowed with endothelial cells. During the aging process, the endothelial cells on the inside of the cornea degenerate. In this way, water can no longer be pumped out of the cornea and drained into the anterior chamber. The cornea begins to swell and its membrane lifts away from the corneal epithelium. A thickening of the so-called Descemet’s membrane, which is the result of abnormal endothelial cell products, usually becomes noticeable at first. In the form of these processes, the disease usually first manifests in the third to fourth decade of life.
Symptoms, complaints, and signs
Patients with Fuchs endothelial dystrophy usually do not experience symptoms in early decades of life, although endothelial cell dystrophy has long since begun. The first symptoms usually appear at around 35 years of age and correspond to an initially mild reduction in visual acuity. Most affected individuals also suffer from increased sensitivity to glare. Characteristically, these early symptoms improve during the course of the day, as the water can at least partially evaporate when the eyes are open. Later in the course of the disease, symptomatic pain may occur. This pain results from tears that form on the cornea. Depending on the age of manifestation and the genetic basis, medicine now distinguishes between different forms of Fuchs endothelial dystrophy, the course of which may differ to a greater or lesser extent. In a large number of all cases, harmless forms are reported that do not cause any significant visual impairment when treated properly.
Diagnosis
The diagnosis of Fuchs endothelial dystrophy is made by the ophthalmologist. The medical history already provides decisive clues. Evidence of endothelial dystrophy is diagnostic. The drainage disorder in the corneal area can also be an important clue for the diagnosis. In the fine diagnosis, the physician uses family history to determine the type of genetic basis of the disease in the individual case. In addition, the age of manifestation helps him to classify the phenomenon in more detail. The prognosis for patients with Fuchs endothelial dystrophy can hardly be generalized. In principle, there are harmless forms of progression, but in individual cases the progression can also lead to severe visual loss and thus to appreciable visual impairment.
Complications
In most cases, the complaints, symptoms, and complications of Fuchs endothelial dystrophy do not appear until late adulthood, so the disease initially goes undetected. Treatment occurs late for this reason.As a rule, this affects the patient’s visual acuity, which decreases drastically. This can lead to complete blindness. The patient also suffers from increased sensitivity to light and finds bright light painful and unpleasant. As the disease progresses, there may be more severe pain and also tears in the cornea. If Fuchs endothelial dystrophy occurs in a rather harmless form, there are usually no further complications. Also the visual acuity is not changed in this case. Treatment is usually carried out by an ophthalmologist and is mainly 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 of the eyes disappears. The life expectancy is not reduced. In some cases, the discomfort of the eyes may also cause psychological discomfort.
When should you go to the doctor?
Changes in vision should generally be checked by a doctor at any age. If there is a blurred perception of the immediate environment, objects can no longer be recognized and seen as usual, or if the existing vision decreases, a visit to the doctor is necessary. If headaches occur, the muscles on the forehead are strained during vision, or if there is a change in the behavior of the affected person, a doctor should be consulted. Increased irritability, inner restlessness and an increase in the general risk of accidents are cause for concern and must be checked by a doctor before further complications arise. If the affected person notices a strong sensitivity to the effects of light or can confirm that there is an increase in the usual sensitivity, he or she should discuss this observation with a physician. If there is pain when seeing, if the eyes are unusually dry or if the skin in the eye region is very red, medical treatment should be initiated. In case of fatigue, an increased need for sleep or impairments in everyday life due to the reduced vision, it is necessary to consult a doctor. If psychological problems or emotional abnormalities arise as a result of the changes in vision, it is advisable to ask a therapist for help.
Treatment and therapy
Causative therapy is not yet available for patients with Fuchs endothelial dystrophy. Because the cause is to some extent genetic, at most advances in gene therapy may provide a causal pathway to a solution. To date, gene therapy has not reached the clinical phase. Since gene therapy measures are also associated with increased expense and high burdens, and the disease is usually rather harmless, the risk-benefit balance would not be in favor of the therapy measure in most cases anyway. Symptomatic therapy options are usually very successful, especially in Fuchs endothelial dystrophy. For non-invasive therapy, for example, saline eye drops are used. These drops make use of the hydrophilic properties of salts. Sufficient water is extracted from the patient’s cornea by the saline liquid to sharpen the visual impression again. If this gentle treatment procedure does not produce the desired results, more invasive methods are used. Progressive symptoms, for example, may be an indication for penetrating keratoplasty. In this procedure, patients receive a corneal graft. In most cases, keratoplasty is performed under retrobulbar anesthesia. An oculopressor and acetazolamide lower the vitreous pressure. The graft is attached using single knot sutures made of nylon thread at the three-, six-, nine-, as well as 12-o’clock position. A diagonal suture according to Hoffmann completes the suture technique. The suture technique should avoid postoperative complications such as thread migration. In principle, the operation takes less than an hour if performed by a specialist. In addition to this invasive treatment, Descemet Membrane Endothelial Keratoplasty may also be used if patients do not show improvement after drop treatment.
Outlook and prognosis
There is no cure for Fuchs endothelial dystrophy. The causes of the disease are partly due to genetic predispositions.Since, for legal reasons, no intervention for the purpose of altering human genetics is allowed, therapy is limited to symptomatic treatment of the patient’s cornea. The peculiarity of Fuchs endothelial dystrophy lies in the balancing process between alleviation of symptoms and the risks of treatment. In many cases, the severity of the impairments in daily life is minimal, so the potential complications would be more extensive and complex than the existing impairments. With the administration of medication, improvement of vision can already be produced in many patients. After the use of saline eye drops, a large number of affected individuals report sharper vision. As soon as the medication is discontinued, a regression of the optimized vision occurs within a short period of time. For this reason, long-term therapy is necessary to maintain the prospect of relief. In particularly severe cases, surgical intervention is required. This is associated with the usual risks and side effects. A corneal transplantation is performed with the aim of achieving permanent freedom from symptoms. If the operation is successful, the prognosis is favorable. Vision is permanently improved in these patients.
Prevention
Fuchs endothelial dystrophy cannot yet be successfully prevented On the one hand, genetic factors play a causative role. For another, not all causative factors have been elucidated to date.
Follow-up
The options for follow-up care are very limited in Fuchs endothelial dystrophy. There may also be no self-healing in this case, so the patient is always dependent on medical treatment. In the worst case, complete blindness can occur, which can no longer be treated. However, the life expectancy of the affected person is not reduced by Fuchs endothelial dystrophy. In many cases, affected individuals are dependent on the use of eye drops. Regular use must be ensured in order to keep the cornea evenly moist. It is not uncommon for those affected by Fuchs endothelial dystrophy to rely on surgical intervention to alleviate the symptoms. In this case, the affected person must always rest and take care of his or her body after the procedure. They should refrain from exertion or from stressful and unnecessary activities. The eye in particular should be protected in order to speed up the healing process. If vision loss occurs, those affected are often dependent on the help and support of friends and family. In this context, contact with other Fuchs endothelial dystrophy sufferers can also be useful to make everyday life easier.
What you can do yourself
Sufferers of Fuchs endothelial dystrophy should avoid unnecessary eye strain. Light exposure should be adapted to the individual needs of the eyes and should not be too dark or too bright. In the course of the disease, the demands on the eyes must be corrected and changed to reduce overexertion. In everyday life, the patient can take care not to spasmodically try to see certain visual stimuli sharply with maximum strain. When the eyes and forehead muscles are contracted, strong pressure is exerted on the eyes, which has a negative effect on well-being. In many cases, this leads to an increase in discomfort as headaches develop and stress builds up. In case of changes in vision, the patient should always consult a doctor and follow the doctor’s instructions. If the vision decreases, emotional problems often occur. For dealing with Fuchs endothelial dystrophy it is advisable if the
patient takes advantage of psychological support. In conversations with a therapist, friends, relatives, or people who also suffer from the disease, worries and experiences can be exchanged. Fears can be reduced and disagreements can be clarified. Relaxation techniques enable the patient to reduce his or her inner stress. Mental relief often occurs when yoga is practiced regularly, for example.