← All diseases

Eye and hearing diseases

Usher syndrome

An inherited disease that affects both hearing and vision. Hearing loss is usually present from birth. Vision slowly gets worse over the years.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Eye and hearing diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

The hair cells in the inner ear and the light cells in the retina are lost over time. This causes hearing loss and increasing vision loss. The vision loss is caused by an eye disease called retinitis pigmentosa. In some types, the balance organ is also affected. There are three main types; types 1 and 2 are the most common.

Which symptoms can occur?

How severe the symptoms are and the age they begin depend on the type.

  • Severe hearing loss or deafness from birth (type 1)
  • Hearing loss from birth that ranges from mild to severe, mostly for high-pitched sounds (type 2)
  • Normal hearing at birth, then hearing loss beginning in childhood (type 3)
  • Difficulty seeing at night and in dim light
  • Loss of side vision, over time tunnel vision
  • Balance problems; sitting and walking late (type 1)
  • Clouding of the lens of the eye, called cataract (sometimes)

How is it diagnosed?

The doctor tests hearing, balance and vision. The pupil is widened to look at the retina. A visual field test, ERG and OCT may be done. A genetic test confirms the diagnosis.

Treatment and care

There is no approved treatment specific to the disease at the moment. Early support helps people make the best use of their hearing and vision. A hearing aid or a cochlear implant, which is a hearing device placed in the inner ear, can be used. Aids and vision training are provided for people with low vision. If needed, braille and sign language are taught. Research on gene therapy is ongoing. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

All types are inherited recessively. For a carrier couple, the chance of an affected child in each pregnancy is 1 in 4. Carrier mothers and fathers have no symptoms. This chance can be higher when parents are related by blood. Genetic counselling explains the risks and testing options to the family.

Source: MedlinePlus Genetics: Usher syndrome · National Eye Institute (NIH): Usher Syndrome · Orphanet: Usher syndrome (ORPHA:886)

Key facts

How common is it?
Prevalence: 1-9 per 100 000 (Worldwide)
How is it inherited?
Autosomal recessive
When does it usually start?
Childhood, Infancy, Newborn period

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about Usher syndrome

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 7 active interventional studies for this disease. 2 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Eye and hearing diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:886 · ICD-11 LD2H.4

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.