41. Retinal Degenerative Diseases - Usher Syndrome usher syndrome. A Condition which affects Hearing and Sight. by Mary Guest, Headof Usher Services at Sense. What is it ? Transmission of usher syndrome,. http://www.retina-international.org/usher.htm

Retina International Seeking a cure for Retinitis Pigmentosa (RP), Macular Degeneration, Usher Syndrome and allied retinal distrophies Usher Syndrome A Condition which affects Hearing and Sight. by Mary Guest, Head of Usher Services at Sense. What is it ? Usher syndrome is an inherited condition which results in hearing loss and a progressive loss of vision from Retinitis pigmentosa (RP). The hearing loss is thought to be congenital, and ranges from moderate to profound. RP can occur without hearing loss. The condition is named after a British ophthalmologist, C.H. Usher, who in a paper in 1914 described several cases in which the link between congenital deafness and RP was stressed. However, as far back as 1860 workers such as von Graef and Liebreich in Berlin were aware of the link between congenital deafness and RP, especially in consanguinous marriages. Retinitis Pigmentosa, This term describes not one disease but a group of hereditary diseases of the retina. The retina is the light sensitive tissue inside the eye in which the first stages of 'seeing' take place. With RP the retina slowly degenerates and loses its ability to transmit pictures to the brain. In advanced stages characteristic clumps of pigment appear on the retina and can be seen through an ophthalmoscope. Symptoms

42. Retina International's Scientific Newsletter - Usher Syndrome Loci Scientific Newsletter. Disease Database usher syndrome. Gene mapping of usher syndromeType IIa Localisation of the gene to a 2.1 cM segment on chromosome 1q41. http://www.retina-international.org/sci-news/usher.htm

Retina International's Scientific Newsletter Disease Database Usher Syndrome Recent update from: 25.08.2002 Disease Gene locus MIM Gene Gene MIM MoI Assignment Linked Marker [cM] Remarks References Sensorineural Deafness with RP mt Irish family ZMK-92 type 1a ar French from Poitou type 1b MyoVIIa ar MyoVIIa is expressed in RPE and photoreceptors in adult retina RP of USH1b results from a primary rod-cone defect type 1c Harmonin ar <680 kb))- D11S1310- D11S899- D11S928 French Acadian of Louisiana 1 Lebanese family Indian family (DFNB18) => postulate of allelity with USH1c type 1d Otocadherin ar Moroccan and Pakistani families Allelic to DFNB12 type 1e ar type 1f Protocadherin 15 ar Pooled DNA PCR Hutterite Brethren Indian type 1g ar Palestinian profound hearing loss vestibular dysfunction inside the interval of a.d. hearing loss DFN20 and DFN26 type 2a Usherin ar D1S2646/D1S2629- DS2827- AFM268ZD1, cen- D1S505- D1S425- D1S217- D1S556- D1S237-[1 D1S474-EB1-EB2-KB6- AFM144XF2]-KB1-KB4- D1S229- D1S490- D1S227-TGFb2- D1S439-tel 9 Lebanese families type 2b ar type 2c ar type 3 ar Finish and Italian Y100X is the predominant Finish USH mutation MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial

43. Usher Syndrome usher syndrome. What is usher syndrome? usher syndrome (US) is the mostcommon condition that involves both hearing and vision problems. http://www.clevelandclinic.org/health/health-info/docs/1000/1007.asp?index=5843

44. Fine Mapping Of The Usher Syndrome Type IC To Chromosome 11p14 And Identificatio Fine Mapping of the usher syndrome Type IC to Chromosome 11p14 and Identificationof Flanking Markers by Haplotype Analysis. usher syndrome Consortium, Am. http://www.molvis.org/molvis/v1/p2/

A Molecular Vision Research Report Fine Mapping of the Usher Syndrome Type IC to Chromosome 11p14 and Identification of Flanking Markers by Haplotype Analysis R. Ayyagari , Y.Li R.J.H.Smith M.Z. Pelias , and J.F.Hejtmancik 1. National Eye Institute, National Institutes of Health 2. Department of Otolaryngology - Head and neck surgery, University of Iowa 3. Department of Biometry and Genetics, Louisiana State University Medical Center *Corresponding author email: f3h@helix.nih.gov Purpose : To refine the map position of the Usher syndrome type 1C (USH1C) locus to 11p14-p15.1 in the French-Acadian population settled in Louisiana. Methods : Linkage and haplotype analysis of Ush1C in the French-Acadian families from southwestern Louisiana was carried out using additional markers known to map to the USH1C interval. Markers localized to 11p were also mapped on the J1 somatic cell hybrid panel. This analysis also helped to localize precisely the USH1C interval. Results : New flanking markers for USH1C have been identified, localizing the USH1C gene to a 1 cM interval between markers D11S1397 and D11S1888. Markers D11S1890 and D11S1888 were placed within the USH1C interval. Analysis of all the markers in the USH1C region flanked by D11S1397 and D11S1888 on the J1 somatic cell hybrid panel localized USH1C to the upper half of chromosome 11p14. Conclusion : The Usher Syndrome type 1C gene has been localized to a 1 cM interval between the markers D11S1397 and D11S1888 on chromosome 11p14.

45. Overview/Structure Your Communication Center for All Information on usher syndrome inthe Internet. Pattern of Inheritance What causes usher syndrome? http://www.usher-europe.org/usher/e_overview.html

46. Common Experiences Of People With Usher Syndrome Medical Information Definition What is usher syndrome? Usher What causesusher syndrome? usher syndrome is a genetic condition. Genes http://www.usher-europe.org/usher/eng_web/MdWhatIsUsh.html

47. MDchoice.com Usher Syndrome usher syndrome. What is usher syndrome? usher syndrome (US) is the mostcommon condition that involves both hearing and vision problems. http://mdchoice.com/Pt/consumer/usher.asp

Sign up for a FREE disease newsletter: Select Disease Allergies Arthritis Cholesterol Depression Diabetes Hypertension Medical Information Arthritis Center Allergy Center Kid's Health Cancer Center ... Health News Interactive Education Simulators PhotoRounds Medical Databases MEDLINE CancerLit AIDSLine Healthcare Employment About Us Editorial Board Our Company Contact Us We subscribe to the HONcode principles of the Health On the Net Foundation Spell Checker Search the Web's best medical sites Searches over 6,000 Medical Journals Health Information Monday, March 31, 2003 Find more information about this topic from either the Web or the world's best medical journals by using the search boxes at the top of this page. Usher Syndrome What is Usher syndrome? Who is affected by Usher syndrome? What causes Usher syndrome? What are the types of Usher syndrome? ... Where can I get additional information? What is Usher syndrome? Usher syndrome (US) is the most common condition that involves both hearing and vision problems. A syndrome is a disease or disorder that has more than one feature or symptom. The major symptoms of US are hearing impairment and an eye disorder called retinitis pigmentosa, in which vision worsens over time. Some people with US also have balance problems. There are three different types of US. Although it was first described by Albrecht Von Graefe in 1858, US was named for Charles Usher, a British eye doctor, who believed that this condition was inherited or passed from parents to their children.

48. Lega Del Filo D'Oro - Usher Syndrome back. usher syndrome. How it retina pigmentosa). There are 3 types ofusher syndrome. Type I This is the earliest and most serious. http://www.legadelfilodoro.it/english/usher.htm

Usher Syndrome How it develops Usher syndrome is a congenital disease which involves differing degrees of hearing loss from birth and a progressive loss of sight caused by retina degeneration (known as retina pigmentosa). There are 3 types of Usher Syndrome. Type I: This is the earliest and most serious. Serious or total deafness is present from birth and in adolescence sight problems appear which involve very poor adaptation to excessive light fluctuations. There are also night blindness, central vision ("tunnel" vision)and balance problems. Tipe II: Characterised by medium to severe congenital deafblindness with later disturbances of the visual apparatus (poor light fluctuation adaptation, night blindness, tunnel vision). Type II sufferers do not suffer from balance problems. Tipe III: Hearing loss is slight and progressive. In some cases, hearing is normal. Sight problems are the same as those for Types I and II. 50% of Type III sufferers have balance problems.

49. Usher Syndrome - DeafBlindness Cause usher syndrome Deafblindness Cause. Losing Eyes and Ears to usher syndrome. Jointhe Discussion. TARP offers a very large-print explanation of usher syndrome. http://deafness.about.com/library/weekly/aa062397.htm

zfp=-1 About Deafness/Hard of Hearing Search in this topic on About on the Web in Products Web Hosting Deafness/Hard of Hearing with Jamie Berke Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects ESSENTIALS FAQ on Deafness and Hearing Loss Sign Language Glossary Feature Article Index ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Usher Syndrome - Deafblindness Cause Losing Eyes and Ears to Usher Syndrome Join the Discussion "Do you have usher Syndrome or know anyone with usher? If you have it, how have you adjusted physically and emotionally - especially emotionally - to the loss of your sight in addition to the loss of your hearing?" Usher Syndrome, Anyone? Related Resources Causes of Hearing Loss Features Etiology Subject Page Deafblind Subject Page If you are having difficulty seeing at night, and are hearing impaired, you may be experiencing the onset of Usher Syndrome. Usher is a hereditary condition that results in the progressive loss of eyesight as well as deafness. It is also a condition that is often not diagnosed until later in life, which can result in major psychological impact on the individual. TARP offers a very large-print explanation of Usher Syndrome. An

50. Usher's Syndrome - Articles And Links Usher's Syndrome Guide picks. Links and articles on Usher's Syndrome,a cause of deafblindness. My Life with usher syndrome Lawrence http://deafness.about.com/cs/ushersyndrome/

zfp=-1 About Deafness/Hard of Hearing Search in this topic on About on the Web in Products Web Hosting Deafness/Hard of Hearing with Jamie Berke Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects ESSENTIALS FAQ on Deafness and Hearing Loss Sign Language Glossary Feature Article Index ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Usher's Syndrome Guide picks Links and articles on Usher's Syndrome, a cause of deafblindness. My Life with Usher Syndrome Lawrence Lee describes his experience with Usher Syndrome. Usher Syndrome Feature article on Usher Syndrome. Usher's Bibliography Long bibliography of articles on usher's from the National Information Clearinghouse on Children who are DeafBlind. Usher's General Information Basic information, types of usher's syndrome, and information on newsletters/support groups. Usher's Information Kit An information kit on usher's is available from this Australian association. People in other countries may purchase the kit. Usher-List Discussion list for usher's syndrome.

51. Usher Syndrome usher syndrome. What is usher syndrome? usher syndrome is passed from parents totheir child(ren) genetically. What are the different types of usher syndrome? http://www.nasal.net/otolaryngology/usher.htm

Usher Syndrome What is Usher syndrome? Usher syndrome is an inherited disorder that involves both a hearing impairment and a vision impairment called retinitis pigmentosa. Some people also have varying problems with balance. Usher syndrome is passed from parents to their child(ren) genetically. What are the different types of Usher syndrome? There are three types of Usher syndrome: US type 1 (US1) - characteristics include: profoundly deaf from birth do not usually benefit from hearing aids severe balance problems vision problems begin by age 10 blindness eventually occurs US type 2 (US2) - characteristics include: moderate to severe hearing problems usually benefit from hearing aids use speech to communicate normal balance retinitis pigmentosa begins in teenage years US type 3 (US3) - characteristics include: born with normal hearing hearing problems develop in teenage years near normal balance deafness by late adulthood retinitis pigmentosa begins around puberty blindness by mid-adulthood How is Usher syndrome diagnosed?

52. The Contact A Family Directory - USHER SYNDROME printer friendly, usher syndrome, usher syndrome is a genetic condition characterisedby sensory neural hearing loss with Retinitis Pigmentosa . http://www.cafamily.org.uk/Direct/u17.html

printer friendly USHER SYNDROME home more about us in your area conditions information ... how you can help search this site Usher Syndrome is a genetic condition characterised by sensory neural hearing loss with Retinitis Pigmentosa . The hearing loss is usually congenital and may be total or partial. Retinitis pigmentosa, a progressive deterioration of the retina which causes night blindness, tunnel vision and finally severely reduced central vision, may not occur until late childhood or early adulthood. In some forms poor balance is an associated problem. Diagnosis of Usher syndrome may be delayed until the visual problems have become significant because peripheral and night vision are not routinely tested in school children. There are three types of the Syndrome. Type I is characterised by profound congenital hearing loss, poor balance and retinitis pigmentosa before the age of 10. Type II presents moderate to severe hearing loss, normal balance and retinitis pigmentosa develops in the late teens or early 20's. Type III is characterised by progressive hearing loss and Retinitis Pigmentosa progressing at a variable rate, generally with onset around the second or third decade of life.

53. Johns Hopkins Otolaryngology Head & Neck Surgery * Usher Syndrome What is usher syndrome? usher syndrome is an inherited disorder that involves botha hearing impairment and a vision impairment called retinitis pigmentosa. http://www.hopkinsmedicine.org/otolaryngology/disorders/hearing/usher.html

Back to Hearing Disorders What is Usher syndrome? Usher syndrome is an inherited disorder that involves both a hearing impairment and a vision impairment called retinitis pigmentosa. Some people also have varying problems with balance. Usher syndrome is passed from parents to their child(ren) genetically. What are the different types of Usher syndrome? There are three types of Usher syndrome: US type 1 (US1) - characteristics include: profoundly deaf from birth do not usually benefit from hearing aids severe balance problems vision problems begin by age 10 blindness eventually occurs US type 2 (US2) - characteristics include: moderate to severe hearing problems usually benefit from hearing aids use speech to communicate normal balance retinitis pigmentosa begins in teenage years US type 3 (US3) - characteristics include: born with normal hearing hearing problems develop in teenage years near normal balance deafness by late adulthood retinitis pigmentosa begins around puberty blindness by mid-adulthood How is Usher syndrome diagnosed?

54. NIDCD Health Information . Usher Syndrome usher syndrome. What is usher syndrome? usher syndrome (US) is the mostcommon condition that involves both hearing and vision problems. http://www.medhelp.org/NIHlib/GF-389.html

Health Information Hearing and Balance Smell and Taste Voice, Speech, and Language Spanish Publications ... Healthy People 2010 Search this site Usher Syndrome What is Usher syndrome? Who is affected by Usher syndrome? What causes Usher syndrome? What are the types of Usher syndrome? ... Where can I get additional information? What is Usher syndrome? Usher syndrome (US) is the most common condition that involves both hearing and vision problems. A syndrome is a disease or disorder that has more than one feature or symptom. The major symptoms of US are hearing impairment and an eye disorder called retinitis pigmentosa, in which vision worsens over time. Some people with US also have balance problems. There are three different types of US. Although it was first described by Albrecht Von Graefe in 1858, US was named for Charles Usher, a British eye doctor, who believed that this condition was inherited or passed from parents to their children. Who is affected by Usher syndrome? More than half of the estimated 16,000 deaf-blind people in the United States are believed to have US. What causes Usher syndrome?

55. Health Library - Usher Syndrome usher syndrome. Synonyms Researchers have identified three types ofusher syndrome and debated the existence of a fourth type. The http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid

56. Usher Syndrome usher syndrome. Most often both the hearing loss and the retinal disease arecaused by the same inherited disorder that is called usher syndrome. http://med-aapos.bu.edu/leaweb/EYES&V2/usher.html

USHER SYNDROME Retinitis pigmentosa is an eye disease that occurs rather often in the deaf and hard of hearing. Most often both the hearing loss and the retinal disease are caused by the same inherited disorder that is called Usher syndrome . Deafness or partial hearing loss is present at birth (Usher Type i and II) or develops later (Usher Type III) and retinitis pigmentosa develops its symptoms later. It becomes increasingly difficult to see in twilight and in the dark. The word retinitis means inflammation of the retina and is actually a wrong name because RP is not an inflammation but a degeneration of the retina. The word pigmentosa comes from the word pigment that means colour substance. The outermost layer of the retina is pigment epithelium with pigment containing cells. Retinitis pigmentosa first affects the pigment epithelium and the rod cells, and first later the cone cells and other retinal cells. Doctors express themselves saying that Usher syndrom is a "combined loss of hearing and vision" because of sensorineural hearing loss and degeneration of the retina . The word syndrome means that the disease affects several organs (eyes and ears) in a typical way. Sensorineural hearing loss means that the damaged cells are the hearing cells of the inner ear. Degeneration of the retina means that retinal cells, rods and cones, die very slowly, the rod cells earlier, the cone cells later. Loss of retinal functions leads to loss of visual field and other changes in vision.

57. Usher Syndrome usher syndrome. Most often both the hearing loss and the retinal disease arecaused by the same inherited disease that is called Usher's syndrome. http://med-aapos.bu.edu/leaweb/usher.html

USHER SYNDROME Retinitis pigmentosa is an eye disease that occurs rather often in the deaf and hard of hearing. Most often both the hearing loss and the retinal disease are caused by the same inherited disease that is called Usher's syndrome . Deafness or partial hearing loss is present at birth (Usher Type i and II) or develops later (Usher Type III) and retinitis pigmentosa develops its symptoms later. It becomes increasingly difficult to see in twilight and in the dark. Doctors express themselves saying that Usher syndrom is a "combined loss of hearing and vision" because of sensorineural hearing loss and degeneration of the retina . The word syndrome means that the disease affects several organs (eyes and ears) in a typical way. Sensorineural hearing loss means that the damaged cells are the hearing cells of the inner ear. Degeneration of the retina means that retinal cells, rods and cones, die very slowly, the rod cells earlier, the cone cells later. Loss of retinal functions leads to loss of visual field and other changes in vision. There are other syndromes that cause loss of hearing and vision but they are more rare than is Usher syndrome. It is also possible that a person who lost his/her hearing for another disease later develops retinal disease. Or a person who is visually impaired may develop hearing problem later in life. Not everyone who has hearing problem and retinitis pigmentosa has Usher syndrome.

58. Usher Syndrome & RP usher syndrome RP Home MeDeafBlind.com, ©2000 MSM Productions,LTD. All Rights Reserved. Webmaster Site Terms. http://www.medeafblind.com/us_rp/

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59. CAUSE - European Usher Syndrome Network European usher syndrome Network EUSN. The European usher syndrome Network (EUSN)is recognised by Deafblind International (DbI) as an emerging Network. http://www.deafblindinternational.org/cause/eusn.html

Homepage What is CAUSE? Conference EUSN ... Conference - Day Places European Usher Syndrome Network - EUSN The European Usher Syndrome Network (EUSN) is recognised by Deafblind International (DbI) as an emerging Network. It is for Usher people themselves, their families and friends, plus those who work with people who have Usher, either directly or indirectly. Professionals who may be interested could include those in welfare and social work, teaching, employment, rehabilitation and audiology and eye clinics. The EUSN currently has 18 members from 12 different European countries. People with all three types of Usher are members of the EUSN. We also have at least 3 parents of people with Usher, plus some interested professionals. Of the professionals, one has RP and one is profoundly deaf with sight problems. Peter Palmer, a parent, is Chair of the EUSN and Carol Brill Doran, who has Usher Type 2, is Secretary. The aims of the group are To raise Usher awareness in Europe To create, collect and distribute information

60. CAUSE - European Usher Syndrome Network CHARGE Usher Links. Links below need not be members of Deafblind Internationalbut all links must be to CHARGE or Usher related content. http://www.deafblindinternational.org/cause/otherlinks.html

Homepage What is CAUSE? Conference EUSN ... Conference - Day Places This section is under development. Links below need not be members of Deafblind International but all links must be to CHARGE or Usher related content. Please send any CHARGE or Usher related links that you wish to be included to malcolm.matthews@sense.org.uk Links CHARGE Syndrome Parent Group (Canada) Usher UK Homepage What is CAUSE? ... Conference - Day Places

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