Usher-Syndrom: Symptome, Heilung, Therapie, Vererbung

Usher syndrome: symptoms, cure, therapy, inheritance

A syndrome is characterized by a combination of different symptoms and in the case of Usher syndrome, both hearing and vision are impaired. The impaired hearing is due to a disorder in the inner ear, while the visual impairment is caused by regression of the retina. The clinical picture is hereditary.

Usher syndrome symptoms

In addition to general hearing and visual impairment, Usher syndrome is characterized by a number of other symptoms:

  • Night blindness or impaired vision in the dark
  • Sensitivity to glare
  • Color vision disorders
  • Reduced contrast vision
  • Restrictions of the visual field ("tunnel vision")
  • Delayed light-dark adaptation
  • Often additional lens opacity (cataract)

Usher syndrome type 1

Type 1 Usher syndrome is characterized by the following symptoms:

  • Congenital deafness
  • Severe balance disorder
  • Eye disease retinopathia pigmentosa (RP), which usually occurs in early childhood

Usher syndrome type 2

Type 2 Usher syndrome occurs approximately twice as often as type 1 and is characterized by the following symptoms:

  • Congenital hearing loss, which usually remains stable
  • Normal sense of balance
  • Eye disease RP with variable onset

Usher syndrome type 3

In type 3 of Usher syndrome, the eldest form of the syndrome, the following symptoms are characteristic:

  • Hearing loss first occurs in early adulthood and progresses to deafness
  • Eye disease RP progresses from middle adulthood

Usher syndrome diagnosis

The symptoms usually appear gradually, which is why a diagnosis cannot always be made early on. If symptoms are noticed, a doctor should be consulted promptly. In the anamnesis, the patient's medical history is first recorded, family illnesses are queried and accompanying symptoms are analyzed.

The visual acuity and refractive power of the eye are checked by an ophthalmologist. Furthermore, it is checked whether there is strabismus or eye tremor. The back of the eye is also examined. In addition, imaging procedures provide a more precise insight into the disease findings in the retina.

Usher syndrome progression

The course of Usher syndrome is individual and also varies depending on the type of disease. Accordingly, it is not possible to give an exact prognosis of the course. There is always a risk of blindness and deterioration of hearing up to deafness.

Usher syndrome cure/therapy

Currently, the vision loss caused by RP is not treatable. Therapeutic approaches are therefore aimed at slowing down the progression as much as possible, for example through the use of medication or oxygen therapy.

Hearing loss, on the other hand, can often be compensated for with hearing aids or the insertion of a cochlear implant, so that speech acquisition is made possible or speech ability is preserved. The treating doctor will advise on which form of therapy is most promising in each individual case.

Usher syndrome inheritance

Usher syndrome is passed on byautosomal recessive inheritance. This means that it only occurs if a pathogenic gene mutation is present on both chromosomes of the parents. Accordingly, the disease does not occur in every generation. The parents of an affected person are not affected, as they only carry one disease-causing gene mutation each.

Usher syndrome life expectancy

People affected by Usher syndrome usually have a normal life expectancy, provided there are no other health restrictions in addition to the disease. The support of the whole family is required in the event of an illness and some precautions may need to be taken. Accordingly, this means that all family members need to learn what to look out for and how to make life as accessible as possible for those affected.