Usher Syndrome

The Usher Syndrome is a gene mutation of various chromosomes that causes hearing and vision impairment of various degrees of severity. The most severe form with congenital deafness and loss of visual field is associated with age ten. While the partially progressive hearing impairment is treated with a hearing aid and later with a chochlear implant, no therapy methods are currently available for treating the loss of visual field. However, scientists are currently researching the possibility of stem cell therapies and retinal implants.

What is Usher Syndrome?

The Usher Syndrome is a hereditary visual impairment caused by various chromosome mutations. Half of the total of 40 syndromes in the area of ​​hearing and vision blindness can be traced back to Usher syndrome. The phenomenon occurs with an incidence of three to six per 100,000 cases, with most of them occurring in the sixth decade of life. The number of unreported cases of the disease rate is probably well above the figure mentioned.

Because Usher's syndrome is often confused with ordinary hearing loss, while its connection with the accompanying blindness caused by the common retinal disease retinitis pigmentosa is often not recognized early enough. The first description of the syndrome goes back to Albrecht von Graefe and dates from the 19th century, but was not sufficiently differentiated and documented at that time. The British ophthalmologist Charles Howard Usher was later named after the phenomenon, as he first made the syndrome known and did pioneering work in this area.

causes

Usher syndrome is caused by various gene mutations, all of which are hereditary. Chromosome 11, chromosome 17 and chromosome 3 are particularly often affected by the mutation. Although it is clinically relatively irrelevant which of the chromosomes mutates, the physician distinguishes Usher syndrome into different subtypes between 1B and 3B depending on the chromosomes affected.

Depending on the subtype, the form of the mutation and with it the actual cause of the appearance is different. In the meantime, science is based on so-called Usher protein complexes, which each influence the positioning of different proteins in the membrane. These proteins are supposed to be involved in the signal transmission of the visual and auditory sensory cells. So if one component of these complexes is missing, the entire protein complex cannot do its actual tasks in the cell and in the course of this the respective cells degenerate. The scaffold protein harmonine of the Usher subtype 1C is said to play an important role in this regard.

Symptoms, ailments & signs

As a rule, Usher syndrome manifests itself in the early years as inner ear hearing loss, which is based on damage to the hair cells in the cochlea. Less common than mere hearing loss is complete deafness from birth.In addition to these early symptoms, the retinal disease retinopathia pigmentosa is one of the symptoms of Usher's syndrome that occurs later.

In this disease, photoreceptors die off bit by bit from the periphery to the macula. Night blindness sets in first. Later, the field of vision is restricted and so-called tunnel vision. Depending on the subtype, this phenomenon can lead to complete blindness. In some cases, these symptoms are also accompanied by epileptic seizures.

Diagnosis & course of disease

The diagnosis of Usher syndrome is made by the doctor using various diagnostic methods. A diagnosis as early as possible is crucial because otherwise the patient will not have any time to adjust mentally and physically to the later loss of sensory perception and possibly to prepare by learning new communication methods.

In addition to an electroretinogram, a DNA chip, a protein chip or a genetic analysis can take place. The course of the disease depends heavily on the type. Depending on the severity of the disease, three types can be distinguished. Usher type 1 (USH1) corresponds to the most severe course of the disease, in which there is deafness from birth and sometimes a disturbed sense of balance.

Retinopathia pigmentosa begins in this subtype from the age of ten. Usher type 2 (USH2) is defined by a constant, profound hearing loss, with retinopathia pigmentosa onset during puberty. With Usher type 3 (USH3), progressive hearing loss and loss of visual field only begin in the second half of life.

Complications

Because of Usher syndrome, those affected suffer from very serious ailments and symptoms. Usually, hearing loss occurs at a very young age. Young people in particular also suffer from psychological complaints or even depression.

In the further course there is finally a complete hearing loss and thus significant restrictions in everyday life. In children, Usher syndrome also leads to delayed and very limited development. The disease can also lead to night blindness. In rare cases, those affected suffer from complete blindness.

The syndrome also leads to epileptic seizures, which are associated with very severe pain. In the worst case, these can also lead to the death of the person concerned. Many patients are dependent on the help of other people due to the complaints in their everyday life and cannot cope with everyday life on their own.

With the help of various therapies, some symptoms can be alleviated. However, the progression of the disease cannot be restricted. The patients are dependent on hearing aids and visual aids in their everyday life. Usher syndrome does not change life expectancy.

When should you go to the doctor?

Since Usher syndrome cannot heal itself, the person affected is dependent on a visit to a doctor. This is the only way to prevent further complications or complaints that make life much more difficult for the person affected. Since it is a genetic disease, it cannot be completely cured. If you want to have children, however, genetic counseling can be carried out so that Usher syndrome does not recur in the descendants. A doctor should be consulted with this disease if the affected child is completely deaf. This has been present since birth.

Furthermore, there are also discomforts in the eyes, which also get worse with age. The patients also suffer from night blindness, which can also indicate the syndrome. In some cases, Usher syndrome manifests itself through epileptic fits. In the event of such an attack, an emergency doctor should be called immediately or a hospital should be visited directly. The syndrome itself can be detected by a general practitioner or by a pediatrician. Further treatment depends on the severity of the symptoms and is carried out by a specialist. Typically, this syndrome does not reduce the patient's life expectancy.

Treatment & Therapy

There is currently no treatment for retinopathia pigmentosa in Usher's syndrome. Gene therapy approaches are currently being researched and should soon enable the replacement of defective genes in the retina. In addition, therapy options such as stem cell therapies and retinal implants are currently being researched.

The hearing impairment of Usher syndrome is treated with a hearing aid and may require a cochlear implant in later stages. Usually, patients with Usher syndrome learn sign language early. If severe visual field impairments occur or exist, tactile sign language can be learned in order to maintain communication skills. You take the other person's hands in your own and feel the respective gestures.

prevention

Since Usher syndrome is a hereditary disease based on a gene mutation, the phenomenon cannot be prevented. Because early diagnosis is important for this disease, regular control of one's own hearing and visual field qualities is at least one measure that can increase one's ability to adapt to the changed conditions through an early diagnosis.

Aftercare

Usher syndrome is a gene mutation of various chromosomes that is usually associated with hearing loss and severe visual impairment. Sufferers have to wear a hearing aid; a cochlear implant can help with very severe hearing loss. For a sick person who has suffered from Usher syndrome since birth, everyday life is usually easier to cope with. Patients who become deaf and eventually blind in the course of their lives are often much more problematic in dealing with the disease.

Your everyday life is suddenly very restricted and stressed. Support from acquaintances, friends, specialists and appropriate therapists is therefore very important. With optimal treatment, it is often possible for the person affected to lead a largely normal life. Help in everyday life is of course still necessary: ​​The person's apartment must be handicapped accessible. If the patient has a job, this must correspond to his physical capabilities and the workplace should be adapted to his disability.

Contact with other people should be ensured so that those affected do not withdraw completely. Communication can take place via lip reading or sign languages. If the blindness increases in the course of the disease, so-called tactile sign language can also be used for communication; corresponding signs are conveyed through body contact. The Usher Syndrome Association offers a competent contact point for those affected.

You can do that yourself

Usher syndrome requires medical treatment. Sufferers have to wear a hearing aid or, if they have severe hearing loss, an implant to improve their hearing.

People who suffer from Usher syndrome from birth usually have it easier. For patients who only become deaf and finally blind in the course of their lives, the sudden restrictions represent a great burden in everyday life. It is therefore important to have good support from friends, acquaintances, specialists and therapists. Then optimal treatment can be made possible for the patient, through which a comparatively normal life can be led.

Nevertheless, people who are deaf and blind are dependent on support in everyday life. The apartment must be equipped for the disabled and the job must correspond to one's own physical abilities. Those affected should learn lip reading and other techniques early on in order to be able to communicate better with other people in everyday life. With increasing blindness, the so-called tactile sign language can also be used to communicate. Possible languages ​​are, for example, Tadoma or Gestuno, the latter focusing on feeling the signs through body contact. The Usher Syndrome Association V. gives those affected additional contact points.