In the Leber's congenital amaurosis it is a hereditary disorder of the function of the retina of the eye. A special pigment epithelium located on the retina is primarily affected by the impairment. The term disease is derived from the Greek word 'amauros', which means something like blind or dark. Leber congenital amaurosis is congenital and also includes various degenerative complaints that develop on the choroid membrane of the eye.
What is Leber's congenital amaurosis?
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Basically, the Leber congenital amaurosis a hereditary disease. The disorder was first described in 1869 by the doctor Theodor von Leber. He also found that the disease is more common in closely related people, thus discovering the genetic component of Leber's congenital amaurosis.
It is characteristic of the disease that the patients are born with visual impairments. In some cases, they are completely blind from birth. In siblings, Leber's congenital amaurosis also occurs with a probability of about 25 percent.
In principle, about 10 percent of all blindness cases are caused by Leber's congenital amaurosis. Care must be taken to ensure that Leber's congenital amaurosis is not confused with what is known as Leber's hereditary optic atrophy. This is a genetic disease that usually affects the optic nerve.
In principle, the term Leber's congenital amaurosis covers a large number of so-called retinal-choroidal dystrophies. These arise because the affected patient has a disorder of the pigment epithelium in the retina. As a result, the retina loses its function. In addition, the choroid membrane of the eye degenerates. The number of sick people in Germany is estimated at around 2,000.
causes
The causes of Leber's congenital amaurosis have largely been clarified today. The disease is genetic and in the majority of cases is passed on to the offspring via an autosomal recessive route. Lebersche congenital amaurosis is inherited in an autosomal dominant manner far less often.
According to the current state of knowledge of medical research, the exact causes of the disease lie in various types of mutations. 15 sub-categories of mutations and genetic defects were identified. Often there are homozygotes of certain genes that lead to the development of Leber's congenital amaurosis.
One potential cause is, for example, a defect in the RPE65 gene. As a result, a special enzyme is changed, which is very important for the reconstruction of the substance rhodopsin. In addition, it has been shown that Leber's congenital amaurosis occurs more frequently in children from marriages between relatives.
Symptoms, ailments and signs
Leber congenital amaurosis is usually associated with various complaints. On the one hand, the visual acuity of the affected patient is usually significantly reduced and the visual field is considerably limited. In the majority of cases this leads to complete blindness. In addition, those affected often suffer from nystagmus in connection with a so-called strabismus.
There is also a low sensitivity to glare and hyperopia. In the later course of Leber's congenital amaurosis, opacity of the lens and a keratoglobus develop. In numerous cases, the findings on the retina at the onset of the disease are hardly noticeable.
However, the impairments on the pigment epithelium become more and more obvious over time. In the course of this, there is also depigmentation, which is reminiscent of salt or pepper in imaging procedures. The optic nerve may be affected by atrophy.
Diagnosis and course of disease
If typical symptoms of Leber's congenital amaurosis appear, a suitable specialist should be consulted as soon as possible. Especially with affected children, it is important not to wait to see a doctor. Because the earlier the therapy is started in young patients, the more favorable the course of the disease usually develops.
First and foremost is the anamnesis, which the attending physician carries out together with the patient concerned. The analysis focuses on the individual complaints, the patient's medical history and family relationships. In this way, the doctor already receives a series of important information that will help him make the diagnosis.
The typical clinical appearance finally indicates the presence of Leber's congenital amaurosis. The disease can be reliably diagnosed with the help of electroretinography. If a person suffers from Leber's congenital amaurosis, this examination reveals that the stimuli were absent relatively early. In this way, the disease can also be differentiated from other hereditary atrophies of the optic nerves.
When should you go to the doctor?
Leber congenital amaurosis is hereditary and is therefore usually diagnosed immediately after birth. Whether further visits to the doctor are necessary depends on the type and severity of the disease. If the child has visual problems, an ophthalmologist must always be consulted. In the event of severe complaints, medical advice must be obtained immediately, because if left untreated, the patient can become completely blind. People who suffer from Leber's congenital amaurosis should have a genetic test performed when they have offspring.
With an early diagnosis, if possible while still in the womb, treatment can be initiated quickly. This greatly improves the child's chances of recovery. If there are further visual disturbances or other complaints in the area of the retina and pupils during the treatment, medical advice is required. Other contact persons are the ophthalmologist, an internist and a specialist clinic for hereditary diseases. Children should also be closely monitored by a pediatrician. Appropriate measures can then be taken quickly in the event of complications.
Treatment and therapy
For a long time, medicine was of the opinion that Leber's congenital amaurosis was incurable. Recently, however, studies have shown new indications for successful treatment of the disease. Adenoviruses are injected into the retina so that defective genes are exchanged.
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The prognosis of the disease depends on the extent of the disorders present. Researchers found that the cause of Leber's congenital amaurosis was due to a genetic defect. The challenge is therefore to find a suitable treatment method.
Due to legal requirements, medical professionals are not allowed to change human genetics. However, in recent years it has been shown that some patients have the prospect of relief from their symptoms under certain conditions. According to initial studies, adenoviruses were successfully injected into the retina in the sick. The eyesight was restored. This can significantly improve the patient's quality of life. In some cases it has been documented that a complete regeneration of the eyesight occurred and is comparable to a healthy person. However, this approach is not used in every patient or does not generally lead to a successful therapy. Further studies are necessary and finally the legal applicability must be checked.
It must be taken into account that if the therapy is unsuccessful, the risks of secondary disorders are increased due to the emotional stress. With an unfavorable course of the disease, a mental disorder develops. This also reduces the patient's quality of life and has a significant influence on the further course of the disease.
prevention
Leber congenital amaurosis is a hereditary disease that is present at birth. Because of this, there is no way to prevent the disease. Appropriate therapy is therefore particularly important.
Aftercare
In most cases, the patient has only a few follow-up measures available for this disease, as the disease cannot be completely cured and usually leads to complete blindness of the patient. Therefore, most of those affected with this disease are dependent on the help of other people and their own families in order to still be able to cope with everyday life.
Since this is a genetically determined disease, it is advisable for those affected to have a genetic examination and consultation carried out first in order to prevent the disease from recurring. The earlier a doctor is consulted, the better the further course of this disease is usually.
If the children have already gone blind, they are dependent on intensive support in their lives so that they can continue to develop normally. Loving conversations with the parents also have a positive effect on the further course and can prevent psychological complaints or even depression. Furthermore, no special follow-up measures are necessary or possible. As a rule, this disease does not reduce the life expectancy of the person affected.
You can do that yourself
Patients with Leber's congenital amaurosis are impaired in their independence and quality of life as a result of the disease. The typical limitations of the visual function lead to various problems in everyday life and sometimes result in further physical and psychological ailments. Due to the reduced vision it is possible, for example, that some patients neglect sporting activities and their fitness suffers accordingly. With regard to emotional complaints, anxiety disorders or depression come into question, as the threat of blindness is an enormous burden for many people.
It is important to visit the ophthalmologist regularly so that he can recognize relevant changes in the condition of the visual function at an early stage. If the patient actually becomes blind in the near future, he or she redesigns his apartment according to the visual impairment. The aim of the new facility is to make orientation easier for the blind and also to reduce the risk of accidents. Blind patients practice the use of a long stick in a school for the blind and learn Braille if necessary. Most of those affected also benefit from social contacts through which they receive support despite the illness. Blind people are also an option. Because patients often experience an increase in quality of life when they interact with other visually impaired people.
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