Usher syndrome is a gene mutation on different chromosomes that causes various degrees of hearing impairment. The most severe form of congenital deafness and visual field loss is associated with the age of ten years. While the partially progressive hearing impairment is treated with a hearing aid and later a cochlear implant, no therapy methods are currently available to treat the loss of visual field. However, scientists are currently exploring the possibility of stem cell therapies and retinal implants.
What is Usher Syndrome?
Usher Syndrome is an inherited hearing and visual impairment that is caused by various chromosome mutations. Half of the 40 syndromes in the area of hearing-visual blindness can be traced back to Usher syndrome. The phenomenon occurs with an incidence of three to six in 100,000 cases, with most of them occurring in the sixth decade of life. The number of unreported cases is probably well above the number mentioned. For cryoglobulinemia 101, please visit photionary.com.
Because Usher 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 back to the 19th century, but was not sufficiently differentiated and documented at the time. The British ophthalmologist Charles Howard Usher later gave the phenomenon its name because he first helped to popularize the syndrome and did pioneering work in this area.
Usher syndrome is caused by various gene mutations, all of which are hereditary. Chromosome 11, chromosome 17 and chromosome 3 are particularly frequently affected by the mutation. Although it is ultimately clinically relatively irrelevant which of the chromosomes mutates, doctors differentiate Usher syndrome into different subtypes between 1B and 3B depending on the affected chromosomes.
Depending on the subtype, the form of the mutation and with it the actual cause of the phenomenon is different. Science is now based on so-called Usher protein complexes, each of which influences the positioning of different proteins in the membrane. These proteins are said 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 job in the cell and the respective cells degenerate as a result. In particular, the scaffolding protein harmonin 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 through sensorineural hearing loss, which is based on damage to the hair cells in the cochlea. Complete deafness from birth is rarer than mere hearing loss. In addition to these early symptoms, the retinal disease retinopathy pigmentosa is one of the later manifestations of Usher syndrome.
In this disease, photoreceptors gradually die off from the periphery to the macula. Night blindness sets in first. Later, there is a restriction of the field of vision and the so-called tunnel vision. Depending on the subtype, this phenomenon can lead to complete blindness. Some of these symptoms are also accompanied by epileptic seizures.
Diagnosis & course of disease
Doctors diagnose Usher syndrome using various diagnostic methods. A diagnosis as early as possible is crucial because otherwise the patient will not have 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 gene analysis can take place. The course of the disease depends greatly on the type. Based on the severity of the disease, three types can be distinguished. Usher type 1 (USH1) corresponds to the most severe course of the disease, with deafness from birth and sometimes a disturbed sense of balance.
Already from the age of ten there is an incipient retinopathy of pigmentosa in this subtype. Usher type 2 (USH2) is defined by a constant, severe hearing loss, with retinopathy of pigmentosa beginning during puberty. In Usher type 3 (USH3), progressive hearing loss and visual field loss only begin in the second half of life.
Because of Usher Syndrome, those affected suffer from very serious complaints and symptoms. As a rule, hearing loss occurs at a very young age. Young people in particular also suffer from mental health problems or even depression.
In the further course, there is finally a complete loss of hearing and thus significant limitations in everyday life. In children, Usher syndrome also results in 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, this can even lead to the death of the person concerned. Many patients are dependent on the help of other people due to the symptoms in their everyday life and cannot cope with everyday life on their own.
Some symptoms can be alleviated with the help of various therapies. However, the progressive course of the disease cannot be restricted. Patients are dependent on hearing aids and visual aids in their everyday lives. However, life expectancy is not changed by Usher syndrome.
When should you go to the doctor?
Since Usher syndrome cannot heal itself, the affected person 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 those affected. Since it is a genetic condition, it cannot be completely cured. If you wish to have children, however, genetic counseling can be carried out so that Usher syndrome does not occur again in the offspring. A doctor should be consulted for this disease if the affected child suffers from complete deafness. This has been there since birth.
Furthermore, there are also complaints in the eyes, which also become worse with increasing age. The patients also suffer from night blindness, which can also indicate the syndrome. In some cases, Usher syndrome is manifested by epileptic seizures. In such an attack, an ambulance should be called immediately or you should go straight to a hospital. The syndrome itself can be recognized by a general practitioner or by a pediatrician. Further treatment depends on the severity of the symptoms and is carried out by a specialist. As a rule, the patient’s life expectancy is not reduced by this syndrome.
Treatment & Therapy
There is currently no treatment for the retinopathy of pigmentosa in Usher syndrome. However, gene therapy approaches are currently being researched and should soon make it possible to replace defective genes in the retina. In addition, therapy options such as stem cell therapies and retina 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. As a rule, patients with Usher syndrome learn sign language at an early age. If serious visual field impairments occur or exist, tactile sign language can be learned in order to maintain the ability to communicate. You take the hands of the other person in your own and feel the respective gestures.
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, however, regular monitoring of one’s own hearing and visual field qualities is at least one measure that can increase one’s ability to adapt to changing conditions through early diagnosis.
Usher syndrome is a gene mutation of different chromosomes, which is usually associated with hearing loss and severe visual impairment. Those affected must wear a hearing aid, and a cochlear implant can help in the case of very severe hearing loss. For a patient who has suffered from Usher syndrome since birth, everyday life is usually easier to cope with. Patients who become deaf and eventually blind later in life often have much more problems 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 those affected to lead a largely normal life. Help in everyday life is of course still necessary: the apartment of the person concerned must be equipped for the disabled. If the patient has a job, it must correspond to his physical abilities and the workplace should be adapted to his disability.
So that those affected do not withdraw completely, contact with other people should be guaranteed. Communication can take place via lip reading or sign languages. If the blindness increases in the course of the disease, communication can also be carried out using so-called tactile sign language, corresponding signs are conveyed via physical contact. The Usher Syndrome Association offers a competent contact point for those affected
You can do that yourself
Usher syndrome requires medical attention. Affected people must wear a hearing aid or, in the case of 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 then go blind later in life, the sudden limitations represent a major burden in everyday life. It is therefore important to have good support from friends, acquaintances, specialists and therapists. Then the patient can be given the best possible treatment, which allows them to lead a comparatively normal life.
Nevertheless, people who are deaf and blind need 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 at an early stage in order to be able to communicate better with other people in everyday life. With increasing blindness, communication can also be carried out using so-called tactile sign language. Possible languages are, for example, Tadoma or Gestuno, with the latter focusing on feeling the gestures through physical contact. The association Usher Syndrome e. V. provides those affected with further contact points.