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Usher Syndrome Type 1

USH1


Presentation

  • 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]
  • Retinitis pigmentosa first presents with night blindness, but progresses to tunnel vision and loss of visual acuity. Some patients with mild missense variants may develop retinitis pigmentosa only, without exhibiting hearing loss.[sema4genomics.com]
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]
Chronic Infection
  • It is characterized by chronic infections of the upper and lower respiratory tract and by male infertility.[jamanetwork.com]
Gaucher Disease
  • Frequency of carriers of chronic (type I) Gaucher disease in Ashkenazi Jews. Am J Med Genet 1987 ;27: 561 - 565 16. Morell RJ, Kim HJ, Hood LJ, et al.[nejm.org]
Hearing Impairment
  • Abstract Usher syndrome type I is an autosomal recessive disease characterized by profound congenital hearing impairment and vestibular dysfunction followed by the onset of progressive pigmentary retinopathy in childhood or early adolescence.[ncbi.nlm.nih.gov]
  • 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]
Loss of Peripheral Vision
  • 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]
  • In adolescence, people with Usher syndrome type 1F develop retinitis pigmentosa, an eye disease which causes night blindness and a gradual loss of peripheral vision. Eventually only the central vision remains, creating “tunnel vision.”[jscreen.org]
  • An individual with loss of peripheral vision has some degree of "tunnel vision" making it difficult to gather comprehensive visual information in an environment; he or she will benefit from learning visual efficiency skills such as scanning an environment[familyconnect.org]
  • RP causes nightblindness and a loss of peripheral vision through the progressive degeneration of the retina.[sense.org.uk]
  • The first signs of RP — night blindness and loss of peripheral vision — usually appear in early adolescence. In Usher syndrome type 2 (USH2), newborns have moderate to severe hearing impairment.[blindness.org]

Treatment

  • TREATMENT Treatment for Usher Syndrome is symptomatic depending on the features of an individual.[evolvegene.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]
  • Currently, there is no treatment. Couples who are planning a pregnancy or who are already pregnant may decide to have testing to find out whether they are carriers and at risk of having a baby with Usher syndrome type IF.[labcorp.com]

Prognosis

  • 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]
  • 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]
  • 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]
  • (see diagram below) Life Expectancy For all types of Usher syndrome, the overall prognosis is good, as is general health.[ushersyndrome.wordpress.com]
  • […] third decade) Visual field loss Appears mid-childhood Less than 20 degrees probable by mid 20's Slower, but legal blindness probable at some point Central visual acuity Progressive loss with early development of cataracts Less severe but great variation Prognosis[tsbvi.edu]

Etiology

  • 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]

Epidemiology

  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • 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]
  • 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]
  • […] 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]

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