The SANS protein contains three ankyrin domains and a sterile alpha motif, and its C-terminal tripeptide presents a class I PDZ-binding motif. [ncbi.nlm.nih.gov]

Overlapping and atypical presentations have been described for all three types of Usher syndrome. For example some individuals with mutations in type I genes may have a milder presentation (moderate hearing loss and/or a normal vestibular system). [usher-syndrome.org]

• Recurrent Infection

  Since infancy, the patient had developed recurrent infections of the upper and lower respiratory tract; cystic fibrosis and severe immunodeficiency had been excluded. [jamanetwork.com]

• Hearing Impairment

  Patients with type 2 disease generally are hearing impaired but have no balance problems. All patients develop eye problems that cause difficulty seeing in the dark. [clinicaltrials.gov]

  Abstract Usher syndrome (USH) is an autosomal recessive disorder associated with sensorineural hearing impairment and progressive visual loss attributable to retinitis pigmentosa. This syndrome is both clinically and genetically heterogeneous. [ncbi.nlm.nih.gov]

  (NH), children with hearing impairment and hearing aids (HI+HA), and children with other types of deafness and CI (other CI). [diva-portal.org]

  Usher Syndrome is the most common genetic cause of deaf-blindness in adults and affects 3-6% of children born with hearing impairment(Kremer et al., 2006). [ushersyndrome.wordpress.com]

• Peripheral Vision Loss

  Individuals with Usher Syndrome have hearing loss and vision loss. [evolvegene.com]

• Retinal Pigmentation

  On fluorescein angiography, both eyes showed diffuse hyperfluorescence due to pigment epithelial atrophy together with hypofluorescence, corresponding to bone spicule pigment clumping. These findings were consistent with retinitis pigmentosa. [jamanetwork.com]

Standard treatment protocol was used except that the treatment duration was doubled. A year after the treatment, the angioma-like tumour vanished and exudation was dramatically reduced. [ncbi.nlm.nih.gov]

TREATMENT Treatment for Usher Syndrome is symptomatic depending on the features of an individual. [evolvegene.com]

Genetic testing can be used to identify at-risk USH3 CLRN1N48K patients before the onset of hearing loss, and the small molecule treatment with BF844 could, in theory, be started preemptively." [sciencedaily.com]

Back to top What treatments are available? While there are no treatments for Usher syndrome, intensive research is underway to discover the causes of and treatments for all types of the disease. [blindness.org]

Prognosis The prognosis mainly depends on the progression of the visual loss: blindness occurs in almost all cases between 50 and 70 years of age. The documents contained in this web site are presented for information purposes only. [orpha.net]

COMMON Features of the Disorder Retinitis pigmentosa Night blindness progresses to more visual loss (e.g. peripheral vision loss) Cataracts Developmental delay Balance problems PROGNOSIS Features of the disorder are confined to sensory issues and other [evolvegene.com]

(see diagram below) Life Expectancy For all types of Usher syndrome, the overall prognosis is good, as is general health. [ushersyndrome.wordpress.com]

What is the prognosis for a person with Usher Syndrome Type 1F? Usher syndrome type 1F causes severe hearing and vision impairment, however it does not affect one’s lifespan or intelligence. [jscreen.org]

Again, the prognosis of eventual blindness comes as a shock. [asha.org]

Etiology So far, mutations in five genes ( MYO7A, USH1C, CDH23, PCDH15, USH1G ) and one locus ( USH1E ) have been implicated in US type 1. [orpha.net]

Our understanding of, and ability to test for, the underlying etiology of syndromes has been greatly enhanced by the study of the human genome and proteins necessary for normal development. [asha.org]

Since they thought the etiology of the hearing loss was Connexin 26, no one ever mentioned Usher or looked into it. At age 12, the female twin starting having difficulty with her night vision. She wore corrective lenses as well. [audiologyonline.com]

There can be several etiologies behind deafblindness, but Usher syndrome is one of the most common causes ( Pennings, 2004 ; Sadeghi, 2005 ). [journal.frontiersin.org]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

Summary Epidemiology Prevalence is estimated at 1/30,000. US is the most common cause of hereditary combined deafness-blindness. Clinical description Onset usually occurs during childhood. [orpha.net]

Epidemiology The incidence is about 1 in 25,000. About 3-6% of hearing impaired children have the condition. 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. [patient.info]

Nájera Epidemiology of Usher syndrome in Valencia and Spain [4.] Usher Syndrome Conference: The State of the Art. Gothenburg. Suecia. 31 Enero a 2 Febrero. 2005 [5.] E.M. Sankila, L. Pakarinen, H. Kaariainen, K. Aitomaki, S. Karjalainen, P. [elsevier.es]

Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 1991 ;630: 16 - 31 26. Young NM, Johnson JC, Mets MB, Hain TC. Cochlear implants in young children with Usher's syndrome. Ann Otol Rhinol Largyngol Suppl 1995 ;166: 342 - 345 27. [nejm.org]

Public Health Relevance The knowledge gained from this study will improve our understanding of the biology and pathophysiology of the hearing and visual systems. [grantome.com]

To test the efficacy of BF844, the School of Medicine scientists developed and studied a mouse model that mimicked the progressive hearing loss of USH3, concluding that BF844 effectively attenuated progressive hearing loss and prevented deafness in this [sciencedaily.com]

[…] devices or cochlear implants [ 9 ] (which appear to enhance the quality of life) [ 10 ] Orientation and mobility training Communication services and independent living training that may include learning Braille, low vision services, or auditory training Prevention [patient.info]

Top 10 Retinal-Research Advances documented by the Foundation Fighting Blindness Retinitis Pigmentosa and Usher’s Syndrome: Understanding the Visual Problems of Retinitis Pigmentosa published in the Vision Enhancement Journal Retinitis Pigmentosa, a Prevent [familyconnect.org]

[…] hearing aids are frequently ineffectual Vestibular: Use of supervised sports may assist the individual affected with this condition to become more proficient in utilizing somatosensory factor of the balance Visual: There is some evidence that certain preventative [mazornet.com]

This will also provide the necessary tests to evaluate phenotype rescuing. 3/To prevent and treat the retinal defect by associated adenovirus (AAV) gene therapy. [cordis.europa.eu]