Skip to main content

Usher's syndrome

Medical Professionals

Professional Reference articles are designed for health professionals to use. They are written by UK doctors and based on research evidence, UK and European Guidelines. You may find one of our health articles more useful.

Synonyms: Graefe-Sjögren syndrome, Graefe-Usher syndrome and von Graefe's syndrome

Continue reading below

What is Usher's syndrome?

The syndrome is a genetic defect causing retinitis pigmentosa and congenital deafness. There may also be vestibular dysfunction. Deafness is usually congenital but loss of visual acuity and visual fields, progressing to complete blindness, occurs in the teens and 20s in both Usher's syndrome type 1 (USH1) and Usher's syndrome type 2 (USH2).

Types of Usher's syndrome

Usher's syndrome is divided into 3 types, although a 4th type has been suggested. The 3 basic types are called USH1, USH2 and USH3 which are caused by mutations in different genes and are further divided into different subtypes. To date, nine causative genes have been identified and confirmed as responsible for the syndrome when mutated:1 MYO7A, USH1C, CDH23, PCDH15, and USH1G (SANS) for Usher type 1; USH2A, ADGRV1, and WHRN for Usher type 2; CLRN1 for Usher type 3. USH is inherited in an autosomal recessive pattern. Digenic, bi-allelic, and polygenic forms have also been reported, in addition to dominant or nonsyndromic forms of genetic mutations.


It is autosomal recessive and so both parents must be carriers or even affected, although spontaneous mutation can occur. USH4, if it is a separate entity, is X-linked. Most authorities do not accept type 4.

The relevant gene locus varies between types. Even the chromosome varies. The chromosomes that bear the mutation for the variations USH1, USH2 and USH3 are numbers 11, 1 and 3 respectively, although some of the subgroups are on different chromosomes.

These genes code for diverse proteins, and these USH proteins are essential for the correct development and maintenance of the structure and cohesion of the stereocilia.2

Continue reading below

How common is Usher's syndrome? (Epidemiology)

It has an estimated worldwide prevalence of 4-17 in 100,000 people.3 . It has also been estimated to represent 5% of all congenital deafness and 18% of all retinitis pigmentosa (RP) cases.

Types 1 and 2 are more common than type 3 and together account for 90-95% of Usher's syndrome and about 10% of all children born deaf. Usher's syndrome represents about half of all people who are both deaf and blind. Most cases of type 3 come from Finland.

Usher's syndrome symptoms (presentation)3

  • Usher's syndrome type 1 (USH1) produces profound deafness from birth and there are severe problems with balance.4 Hearing aids offer little or no benefit and most communicate by sign language. Poor balance makes them slow to sit without support and they rarely learn to walk before the age of 18 months. At first, sight seems normal but they usually have some problems with vision by the time they are aged 10. Night vision is affected first but it progresses rapidly until they are completely blind.

  • Children with Usher's syndrome type 2 (USH2) are born with moderate-to-severe hearing impairment and normal balance.5 The degree of hearing loss varies but most attend normal schools and benefit from hearing aids. They communicate with speech and often lip read. The higher frequencies are more affected than the lower ones. The visual problems in USH2 tend to progress more slowly than in USH1. USH2 causes visual field defects that appear in the early 20s.

  • Children with Usher's syndrome type 3 (USH3) have normal hearing and normal or mildly impaired balance.6 Hearing deteriorates with time. The rate of loss of hearing and sight varies between individuals, even in the same family. Hearing problems are noticed by the teenage years and they become deaf by mid-to-late adulthood. Night blindness starts around puberty. Blind spots appear in the late teens or early 20s. By middle age they are usually blind.

Visual loss is progressive but auditory loss is constant, at least in USH2.

Loss of vision usually starts with night blindness and this is followed by loss of peripheral vision. Some degree of tunnel vision can continue until quite late.

In USH1 there is impairment of the vestibular system that accounts for the lack of balance.7 It is normal in USH2 but visual feedback contributes to balance. The adequacy of vestibular function in USH3 is unknown.

Usher's syndrome can lead to and present with psychiatric disturbances which can be difficult both to investigate and to manage.

Continue reading below

Differential diagnosis

Deafness and blindness in a young child are usually a result of hereditary syndromes. In one study they were found to account for 44.8% of all identified aetiologies of deaf-blindness and included syndromes, such as CHARGE syndrome, Down syndrome, Stickler syndrome, Dandy-Walker syndrome, and Goldenhar syndrome.8 Another cause of deafness and blindness is congenital rubella.

Deafness and retinitis pigmentosa are rarely found together. Most people who have retinitis pigmentosa and hearing loss probably have Usher's syndrome type 1 (USH1) or Usher's syndrome type 2 (USH2). About 25% of those with retinitis pigmentosa have Usher's syndrome.


Electronystagmography (ENG) to detect vestibular problems and electroretinography (ERG) to detect retinitis pigmentosa aid early detection.

Usher's syndrome treatment and management9

Early diagnosis of Usher's syndrome is important to permit special educational training to facilitate coping with the combined hearing and visual loss. The programme will depend on the severity of the auditory and visual impairments as well as the age and abilities of the individual, but all affected will benefit from a multidisciplinary approach.
They will benefit from:

  • Adjustment and career counselling

  • Access to technology such as hearing aids, assistive listening devices or cochlear implants (which appear to enhance the quality of life)

  • Orientation and mobility training

  • Communication services and independent living training that may include learning Braille, low vision services, or auditory training

Usher's syndrome prevention

If a child is born with the condition the risk of an affected sibling is 1 in 4.

Preimplantation genetic testing with targeted sequencing and haplotype analysis has been reported as successful for affected families.10


Albrecht von Graefe first described the condition in 1854. Charles Howard Usher was a Scottish ophthalmologist who described and named the syndrome in 1914 in a work called On the inheritance of retinitis pigmentosa, with notes of cases. In it he reviewed the syndrome, describing the pathology and inheritance of 69 cases.

Further reading and references

  1. Castiglione A, Moller C; Usher Syndrome. Audiol Res. 2022 Jan 11;12(1):42-65. doi: 10.3390/audiolres12010005.
  2. Fuster-Garcia C, Garcia-Bohorquez B, Rodriguez-Munoz A, et al; Usher Syndrome: Genetics of a Human Ciliopathy. Int J Mol Sci. 2021 Jun 23;22(13):6723. doi: 10.3390/ijms22136723.
  3. Toms M, Pagarkar W, Moosajee M; Usher syndrome: clinical features, molecular genetics and advancing therapeutics. Ther Adv Ophthalmol. 2020 Sep 17;12:2515841420952194. doi: 10.1177/2515841420952194. eCollection 2020 Jan-Dec.
  4. Usher Syndrome, Type I, Online Mendelian Inheritance in Man (OMIM)
  5. Usher Syndrome, Type IIa, Online Mendelian Inheritance in Man (OMIM)
  6. Usher Syndrome, Type III, Online Mendelian Inheritance in Man (OMIM)
  7. Nisenbaum E, Thielhelm TP, Nourbakhsh A, et al; Review of Genotype-Phenotype Correlations in Usher Syndrome. Ear Hear. 2022 Jan/Feb;43(1):1-8. doi: 10.1097/AUD.0000000000001066.
  8. Stiff HA, Sloan-Heggen CM, Ko A, et al; Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss. Ophthalmic Genet. 2020 Apr;41(2):151-158. doi: 10.1080/13816810.2020.1747088. Epub 2020 Apr 13.
  9. Ayton LN, Galvin KL, Johansen L, et al; Awareness of Usher Syndrome and the Need for Multidisciplinary Care: A Cross-Occupational Survey of Allied Health Clinicians. J Multidiscip Healthc. 2023 Jul 13;16:1927-1936. doi: 10.2147/JMDH.S411306. eCollection 2023.
  10. Luo H, Chen C, Yang Y, et al; Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis. BMC Med Genomics. 2019 Nov 7;12(1):157. doi: 10.1186/s12920-019-0600-x.

Article history

The information on this page is written and peer reviewed by qualified clinicians.

symptom checker

Feeling unwell?

Assess your symptoms online for free