Sun . 20 Jul 2020
TR | RU | UK | KK | BE |

Usher syndrome

usher syndrome, usher syndrome symptoms
Usher syndrome, also known as Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis syndrome, or dystrophia retinae dysacusis syndrome,1 is an extremely rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment It is a leading cause of deafblindness and is at present incurable

Usher syndrome is classed into three subtypes according to onset and severity of symptoms All three subtypes are caused by mutations in genes involved in the function of the inner ear and retina These mutations are inherited in an autosomal recessive pattern

Contents

  • 1 Symptoms and subtypes
    • 11 Usher syndrome I
    • 12 Usher syndrome II
    • 13 Usher syndrome III
    • 14 Usher syndrome Type IV
    • 15 Characteristics
  • 2 Genes associated with Usher syndrome
  • 3 Diagnosis
    • 31 Differential diagnosis
  • 4 Treatment/prospects for gene therapy
  • 5 History
  • 6 Notable cases
  • 7 References
  • 8 Additional reading
  • 9 External links
    • 91 General information
    • 92 Resources
    • 93 Mutations

Symptoms and subtypesedit

Usher syndrome is inherited in an autosomal recessive pattern The genes implicated in Usher syndrome are described below

Usher syndrome is responsible for the majority of deaf-blindness2 The word syndrome means that multiple symptoms occur together, in this case, deafness and blindness It occurs in roughly 1 person in 23,000 in the United States,3 1 in 28,000 in Norway4 and 1 in 12,500 in Germany5 People with Usher syndrome represent roughly one-sixth of people with retinitis pigmentosa6

Usher syndrome is inherited in an autosomal recessive pattern "Recessive" means both parents must contribute an appropriate gene for the syndrome to appear, and "autosomal" means the gene is not carried on one of the sex chromosomes X or Y, but rather on one of the 22 other pairs See the article on human genetics for more details

The progressive blindness of Usher syndrome results from retinitis pigmentosa78 The photoreceptor cells usually start to degenerate from the outer periphery to the center of the retina, including the macula The degeneration is usually first noticed as night blindness nyctalopia; peripheral vision is gradually lost, restricting the visual field tunnel vision, which generally progresses to complete blindness The qualifier 'pigmentosa' reflects the fact that clumps of pigment may be visible by an ophthalmoscope in advanced stages of degeneration6

Although Usher syndrome has been classified clinically in several ways,9810 the prevailing approach is to classify it into three clinical sub-types called Usher I, II and III in order of decreasing severity of deafness7 Usher I and II are the more common forms; the fraction of people with Usher III is significant only in a few specific areas, such as Finland11 and Birmingham12 As described below, these clinical subtypes may be further subdivided by the particular gene mutated; people with Usher I and II may have any one of six and three genes mutated, respectively, whereas only one gene has been associated with Usher III The function of these genes is still poorly understood The hearing impairment associated with Usher syndrome is better understood: damaged hair cells in the cochlea of the inner ear inhibit electrical impulses from reaching the brain

Usher syndrome Iedit

People with Usher I are usually born deaf and often have difficulties in maintaining their balance owing to problems in the vestibular system Babies with Usher I are usually slow to develop motor skills such as walking Worldwide, the estimated prevalence of Usher syndrome type I is 3 to 6 per 100,000 people in the general population

Usher syndrome type I can be caused by mutations in any one of several different genes: CDH23, MYO7A, PCDH15, USH1C, and USH1G These genes function in the development and maintenance of inner ear structures such as hair cells stereocilia, which transmit sound and motion signals to the brain Alterations in these genes can cause an inability to maintain balance vestibular dysfunction and hearing loss The genes also play a role in the development and stability of the retina by influencing the structure and function of both the rod photoreceptor cells and supporting cells called the retinal pigmented epithelium Mutations that affect the normal function of these genes can result in retinitis pigmentosa and resultant vision loss

Type I has been found to be more common in people of Ashkenazi Jewish ancestry central and eastern European and in the French-Acadian populations Louisiana

Usher syndrome IIedit

People with Usher II are generally hard-of-hearing rather than deaf, and their hearing does not degrade over time; moreover, they generally have a normal vestibular system Usher syndrome type II occurs at least as frequently as type I, but because type II may be underdiagnosed or more difficult to detect, it could be up to three times as common as type I

Usher syndrome type II may be caused by mutations in any of three different genes: USH2A, GPR98, and DFNB31 The protein encoded by the USH2A gene, usherin, is located in the supportive tissue in the inner ear and retina Usherin is critical for the proper development and maintenance of these structures, which may help explain its role in hearing and vision loss The location and function of the other two proteins are not yet known

Usher syndrome IIIedit

By contrast, people with Usher III experience a 'progressive' loss of hearing and roughly half have vestibular dysfunction The frequency of Usher syndrome type III is highest in the Finnish population, but it has been noted rarely in a few other ethnic groups

Mutations in only one gene, CLRN1, have been linked to Usher syndrome type III CLRN1 encodes clarin-1, a protein important for the development and maintenance of the inner ear and retina However, the protein's function in these structures, and how its mutation causes hearing and vision loss, is still poorly understood

Usher syndrome Type IVedit

X-linked inheritance, but phenotype is similar to that of type II 13

Characteristicsedit

This syndrome is characterized by hearing loss and a gradual visual impairment The hearing loss is caused by a defective inner ear, whereas the vision loss results from retinitis pigmentosa RP, a degeneration of the retinal cells Usually, the rod cells of the retina are affected first, leading to early night blindness and the gradual loss of peripheral vision In other cases, early degeneration of the cone cells in the macula occurs, leading to a loss of central acuity In some cases, the foveal vision is spared, leading to "doughnut vision"; central and peripheral vision are intact, but an annulus exists around the central region in which vision is impaired

Usher syndrome has three clinical subtypes, denoted as I, II, and III6 People with Usher I are born profoundly deaf, and begin to lose their vision in the first decade of life They also exhibit balance difficulties, and learn to walk slowly as children, due to problems in their vestibular system People with Usher II are not born deaf, but do have hearing loss They do not seem to have noticeable problems with balance; they also begin to lose their vision later in the second decade of life and may preserve some vision even into middle age People with Usher syndrome III are not born deaf, but experience a gradual loss of their hearing and vision; they may or may not have balance difficulties

Usher syndrome is a variable condition; the degree of severity is not tightly linked to whether it is Usher I, II, or III For example, someone with type III may be unaffected in childhood, but go on to develop a profound hearing loss and a very significant loss of sight by early to midadulthood Similarly, someone with type I, who is therefore profoundly deaf from birth, may keep good central vision until the sixth decade of life, or even beyond People with type II, who have useful hearing with a hearing aid, can experience a wide range of severity of the RP Some may maintain good reading vision into their 60s, while others cannot see to read while still in their 40s

Usher syndrome I and II are associated with a mutation in any one of six or three different genes, respectively, whereas only one mutation has been linked with Usher III Since Usher syndrome is inherited in an autosomal recessive pattern, both males and females are equally likely to inherit it Consanguinity of the parents is a risk factor Children of parents who both are carriers of the same mutation have a one-fourth chance of inheriting the condition, and children of such parents who are unaffected have a one-half chance of being carriers Children of parents where only one parent is a carrier have a no chance of having the disease, but have a one-half chance of being a carrier First recognized in the 19th century, Usher syndrome was the first condition to demonstrate that phenotypes could be inherited in tandem; deafness and blindness are inherited together, but not separately Animal models of this human disease such as knockout mice and zebrafish have been developed recently to study the effects of these gene mutations and to test potential cures for Usher syndrome

Genes associated with Usher syndromeedit

Table 1: Genes linked to Usher syndrome
Type  Freq14 Gene locus  Gene Protein  Function  Size AA  UniProt OMIM
USH1B 39–55% 11q135 MYO7A Myosin VIIA Motor protein 2215 Q13402 276900
USH1C 6–7% 11p151-p14 USH1C Harmonin PDZ-domain protein 552 Q9Y6N9 276904
USH1D 19–35% 10q21-q22 CDH23 Cadherin 23 Cell adhesion 3354 Q9H251 601067
USH1E rare 21q21 602097
USH1F 11–19% 10q112-q21 PCDH15 Protocadherin 15 Cell adhesion 1955 Q96QU1 602083
USH1G 7% 17q24-q25 USH1G SANS Scaffold protein 461 Q495M9 606943
USH2A 80% 1q41 USH2A Usherin Transmembrane linkage 5202 O75445 276901
USH2C 15% 5q143-q211 GPR98 VLGR1b Very large GPCR 6307 Q8WXG9 605472
USH2D 5% 9q32-q34 DFNB31 Whirlin PDZ-domain protein 907 Q9P202 611383
USH3A 100% 3q21-q25 CLRN1 Clarin-1 Synaptic shaping 232 P58418 276902

Several genes have been associated with Usher syndrome using linkage analysis of patient families Table 1 and DNA sequencing of the identified loci1516 A mutation in any one of these genes is likely to result in Usher syndrome The clinical subtypes Usher I and II are associated with mutations in any one of six USH1B-G and three USH2A ,C-D genes, respectively, whereas only one gene, USH3A, has been linked to Usher III so far Two other genes, USH1A and USH2B, were initially associated with Usher syndrome, but USH2B has not been verified and USH1A was incorrectly determined and does not exist17 Research in this area is ongoing

Using interaction analysis techniques, the identified gene products could be shown to interact with one another in one or more larger protein complexes If one of the components is missing, this protein complex cannot fulfill its function in the living cell, and it probably comes to the degeneration the same The function of this protein complex has been suggested to participate in the signal transduction or in the cell adhesion of sensory cells16

A study published in 2017 in PNAS show that three proteins related to Usher syndrome genes pcdh15, cdh23, gpr98 are also involved in auditory cortex development, in mouse and macaque Their lack of expression induce a decrease in the number of parvalbumin interneurons Patients with mutations for these genes could have consequently auditory cortex defects

Diagnosisedit

Differential diagnosisedit

Since Usher syndrome is incurable at present, it is helpful to diagnose children well before they develop the characteristic night blindness Some preliminary studies have suggested as many as 10% of congenitally deaf children may have Usher syndrome1 However, a misdiagnosis can have bad consequences

The simplest approach to diagnosing Usher syndrome is to test for the characteristic chromosomal mutations An alternative approach is electroretinography, although this is often disfavored for children, since its discomfort can also make the results unreliable1 Parental consanguinity is a significant factor in diagnosis Usher syndrome I may be indicated if the child is profoundly deaf from birth and especially slow in walking

Thirteen other syndromes may exhibit signs similar to Usher syndrome, including Alport syndrome, Alstrom syndrome, Bardet-Biedl syndrome, Cockayne syndrome, spondyloepiphyseal dysplasia congenita, Flynn-Aird syndrome, Friedreich ataxia, Hurler syndrome MPS-1, Kearns-Sayre syndrome CPEO, Norrie syndrome, osteopetrosis Albers-Schonberg disease, Refsum's disease phytanic acid storage disease, and Zellweger syndrome cerebrohepatorenal syndrome

Treatment/prospects for gene therapyedit

Since Usher syndrome results from the loss of a gene, gene therapy that adds the proper protein back "gene replacement" may alleviate it, provided the added protein becomes functional Recent studies of mouse models have shown one form of the disease—that associated with a mutation in myosin VIIa—can be alleviated by replacing the mutant gene using a lentivirus18 However, some of the mutated genes associated with Usher syndrome encode very large proteins—most notably, the USH2A and GPR98 proteins, which have roughly 6000 amino-acid residues Gene replacement therapy for such large proteins may be difficult

Historyedit

Usher syndrome is named after the Scottish ophthalmologist Charles Usher, who examined the pathology and transmission of this illness in 1914 on the basis of 69 cases19 However, it was first described in 1858 by Albrecht von Gräfe, a pioneer of modern ophthalmology20 He reported the case of a deaf patient with retinitis pigmentosa, who had two brothers with the same symptoms Three years later, one of his students, Richard Liebreich, examined the population of Berlin for disease pattern of deafness with retinitis pigmentosa21 Liebreich noted Usher syndrome to be recessive, since the cases of blind-deafness combinations occurred particularly in the siblings of blood-related marriages or in families with patients in different generations His observations supplied the first proofs for the coupled transmission of blindness and deafness, since no isolated cases of either could be found in the family trees

Notable casesedit

A 31-year-old woman with Usher syndrome, Rebecca Alexander, was profiled in Marie Claire in November 200722 After graduating from the University of Michigan with excellent marks, Alexander went on to Columbia University, where she earned two master's degrees in public health and clinical social work She is an active member of her community, working with various charities in NYC Alexander's dedication as an active member of her community was most notably recognized when she was selected as a "Community Hero" to run with the Olympic Torch for the 1996 Atlanta Olympic Games in honor of her volunteer work for Project Open Hand, a nonprofit organization delivering meals to people living with HIV/AIDS in the San Francisco Bay area Alexander received her psychodynamic psychotherapy training through the American Institute of Psychoanalysis She currently works in private practice specializing in the treatment of mood and anxiety disorders, eating disorders, addictions, disability, and trauma While currently facilitating group seminars for the Foundation Fighting Blindness during national conferences, Rebecca is also in the process of launching the Usher III Initiative, a nonprofit organization dedicated to science and research that seeks to find a cure for Usher III Alexander teaches indoor cycling/spin classes with a strong following at select gyms in New York City She was featured on NBC's Today Show on March 20, 2009, which was nominated for an Emmy award in September 2010 She is the sister of NBC News National Correspondent Peter Alexander She appeared again on the Today Show in September 2014 with her brother, and discussed her experiences with the disease and her book Not Fade Away: A Memoir of Senses Lost and Found

Christine "Coco" Roschaert23 was born in Ottawa, Ontario on 5 January 1980 She is a well-known person with Usher syndrome She has published video blogs on YouTube,24 and was the kick-off speaker for Deaf Awareness Week at the University of Vermont25 In 2006, she graduated with a degree in Communication Sciences from Gallaudet University; there, she was a hunger striker in the 2006 protest organized by the Gallaudet United Now Movement26 Roschaert was in Nigeria founding the first deafblind program in that country Roschaert is now living in Quebec, Canada

A web-community, UsherLife,27 of people with Usher syndrome, was founded on 1 February 2005 by Nick Sturley Although centered on Great Britain, it offers resources to all people with Usher syndrome The organization hosts regular get-togethers in England, such as the Usher Hood Pub in Nottingham28 and a trip to Brighton Pier29

Other people with Usher syndrome have posted videos about their lives and condition on YouTube, most notably Ginny Paja-Nyholm30 In October 2007, Candice, a mom living in Texas, began blogging about her two daughters, Jasmine and Rebecca; Rebecca has Usher syndrome I31

Catherine Fischer wrote a well-received autobiography of growing up with Usher syndrome in Louisiana, entitled Orchid of the Bayou32 Vendon Wright has written two books describing his life with Usher syndrome, I was blind but now I can see33 and Through my eyes34 Louise Boardman has also written a short book called My son has Usher's Syndrome35

Christian Markovic is an artist living with Usher syndrome, who runs a company, Fuzzy Wuzzy Designs36

Spencer Tracy's son John Tracy was a well-known person with Usher syndrome who lived a full life37 The John Tracy Clinic was founded in 1942 by his mother Louise to offer free help to parents of hearing-impaired infants and preschool children1

Jacob Desormeaux, son of horse-racing jockey Kent Desormeaux, has Usher syndrome Jacob was born deaf and is progressively going blind Kent dedicated his race in the Belmont Stakes, which would give him and his horse Big Brown the Triple Crown, to Jacob The family started an organization to raise funds and awareness of the disease Usher syndrome is disproportionately common among the Cajuns of south Louisiana, such as Desormeaux and Catherine Fischer, because of a genetic mutation among early French Acadian settlers in Nova Scotia

DNA helix co-discoverer and Nobel laureate James D Watson has homozygous USH1B mutations, according to his published genome38 It is not clear why he did not develop the syndrome This lack of genetic penetrance argues that expression of the phenotype of Usher syndrome may be more complex than originally assumed

The Israeli Nalaga'at do touch Deaf-blind Acting Ensemble consists of 11 deaf-blind actors, most of whom are diagnosed with Usher syndrome The theater group has put on several productions and appeared both locally in Israel and abroad in London and Broadway39

Referencesedit

  1. ^ a b c d Mets MB, Young NM, Pass A, Lasky JB 2000 "Early diagnosis of Usher syndrome in children" Transactions of the American Ophthalmological Society 98: 237–45 PMC 1298229  PMID 11190026 
  2. ^ Vernon M 1969 "Usher's syndrome — deafness and progressive blindness Clinical cases, prevention, theory and literature survey" Journal of Chronic Diseases 22 3: 133–151 PMID 4897966 doi:101016/0021-96816990055-1 
  3. ^ Boughman J, Vernon M, Shaver K 1983 "Usher syndrome: Definition and estimate of prevalence from two high-risk populations" Journal of Chronic Diseases 36 8: 595–603 PMID 6885960 doi:101016/0021-96818390147-9 
  4. ^ Grøndahl J 1987 "Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway" Clin Genet 31 4: 255–264 PMID 3594933 doi:101111/j1399-00041987tb02804x 
  5. ^ Otterstedde CR, Spandau U, Blankenagel A, Kimberling WJ, Reisser C 2001 "A new clinical classication for Usher's syndrome based on a new subtype of Usher's syndrome type I" Laryngoscope 111 1: 84–86 PMID 11192904 doi:101097/00005537-200101000-00014 
  6. ^ a b c Williams DS 2007 "Usher syndrome: Animal models, retinal function of Usher proteins, and prospects for gene therapy" Vision Research 48 3: 433–41 PMC 2680226  PMID 17936325 doi:101016/jvisres200708015 
  7. ^ a b Smith RJ, Berlin CI, Hejtmancik JF, Keats BJ, Kimberling WJ, Lewis RA, et al 1994 "Clinical diagnosis of the Usher syndromes Usher Syndrome Consortium" American Journal of Medical Genetics 50 1: 32–38 PMID 8160750 doi:101002/ajmg1320500107 
  8. ^ a b Fishman GA, Kumar A, Joseph ME, Torok N, Andersonj RJ 1983 "Usher's syndrome" Archives of Ophthalmology 101 9: 1367–1374 PMID 6604514 doi:101001/archopht198301040020369005 
  9. ^ Hammerschlag V 1907 "Zur Kenntnis der hereditaer-degenerativen Taubstummen und ihre differential diagnostische Bedeutung" Z Ohrenheilk 54: 18–36 
    Bell J 1933 Retinitis Pigmentosa and Allied Diseases 2nd ed London: Cambridge University Press 
    Hallgren B 1959 "Retinitis pigmentosa combined with congenital deafness with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: Clinical and geneto-statistical survey" Acta Psychiatrica Scandinavica Suppl 34 138: 9–101 PMID 14399116 doi:101111/j1600-04471959tb08605x 
    Merin S, Auerbach E 1976 "Retinitis pigmentosa" Surv Ophthalmol 20 5: 303–345 PMID 817406 doi:101016/S0039-62579690001-6 
    Davenport S, Omenn G 1977 The Heterogeneity of Usher Syndrome volume 426 ed Amsterdam: Excerpta Medica Foundation 
    Gorlin R, Tilsner T, Feinstein S, Duvall AJ 1979 "Usher syndrome type III" Arch Otolaryngol 105 6: 353–354 PMID 454290 doi:101001/archotol197900790180051011 
  10. ^ Sankila EM, Pakarinen H, Kääriäinen H, Aittomäki K, Karjalainen S, Sistonen P, de la Chapelle A 1995 "Assignment of Usher syndrome type III USH3 gene to chromosome 3q" Hum Mol Genetics 4 1: 93–98 PMID 7711740 doi:101093/hmg/4193 
  11. ^ Pakarinen L, Tuppurainen K, Laipapala P, Mäntyjärvi M, Puhakka H 1996 "The ophthalmological course of Usher syndrome type III" International Ophthalmology 19 5: 307–311 PMID 8864816 doi:101007/BF00130927 
  12. ^ Hope CI, Bundey S, Proops D, Fielder AR 1997 "Usher syndrome in the city of Birmingham — prevalence and clinical classification" British Journal of Ophthalmology 81 1: 46–53 PMC 1721995  PMID 9135408 doi:101136/bjo81146 
  13. ^ Lee, KJ KJ Lee's Essential Otolaryngology 11th edition ed McGraw Hill Professional, 2015 p 336 ISBN 9780071849937 Retrieved 4 May 2017 CS1 maint: Extra text link
  14. ^ Roux AF, Faugere V, Le Guedard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S, Hamel C, Gilbert B, Malcolm S, Claustres M 2006 "Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%" J Med Genet 43 9: 763–768 PMC 2564578  PMID 16679490 doi:101136/jmg2006041954 
    Ouyang XM, Yan D, Du LL, Hejtmancik JF, Jacobson SG, Nance WE, Li AR, Angeli S, Kaiser M, Newton V, Brown SD, Balkany T, Liu XZ 2005 "Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population" Hum Genet 116 4: 292–299 PMID 15660226 doi:101007/s00439-004-1227-2 
  15. ^ Petit, C 2001 "Usher syndrome: from genetics to pathogenesis" Annual Review of Genomics and Human Genetics 2: 271–97 PMID 11701652 doi:101146/annurevgenom21271 
  16. ^ a b Reiners, J; Nagel-Wolfrum, K; Jürgens, K; Märker, T; Wolfrum, U 2006 "Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease" Experimental eye research 83 1: 97–119 PMID 16545802 doi:101016/jexer200511010 
  17. ^ Gerber, S; Bonneau, D; Gilbert, B; Munnich, A; Dufier, JL; Rozet, JM; Kaplan, J 2006 "USH1A: chronicle of a slow death" American Journal of Human Genetics 78 2: 357–9 PMC 1380243  PMID 16400615 doi:101086/500275 
  18. ^ Hashimoto T, Gibbs D, Lillo C, Azarian SM, Legacki E, Zhang XM, Yang XJ, Williams DS 2007 "Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B" Gene Therapy 14 7: 584–594 PMID 17268537 doi:101038/sjgt3302897 
  19. ^ Usher C 1914 "On the inheritance of Retinitis pigmentosa with notes of cases" Roy Lond Ophthalmol Hosp Rep 19: 130–236 
  20. ^ von Gräfe A 1858 "Exceptionelles Verhalten des Gesichtsfeldes bei Pigmententartung der Netzhaut" Archiv für Ophthalmologie 4: 250–253 
  21. ^ Liebreich R 1861 "Abkunft aus Ehen unter Blutsverwandten als Grund von Retinitis pigmentosa" Dtsch Klin 13: 53 
  22. ^ Alexander R, Grossman AJ November 2007 "out of sight, out of sound" Marie Claire 14 11: 191–193 
  23. ^ "Tactile The World" Tactile The World 
  24. ^ Coco Roschaert – via YouTube 
  25. ^ ASL at UVM
  26. ^ "Xanga 20 is Here!" 
  27. ^ http://ushercouk
  28. ^ 1st Usher Hood Pub Nottingham 22 July 2007 – via YouTube 
  29. ^ Brighton Usher Pier Day 2007 10 June 2007 – via YouTube 
  30. ^ An Usher Syndrome Trivia Challenge 23 April 2007 – via YouTube 
  31. ^ Candice "I'm adopting a Deaf child with Ushers, now what" Retrieved 2007-11-07 
  32. ^ Carroll C, Fischer CH 2001 Orchid of the Bayou: A Deaf Woman Faces Blindness Gallaudet University Press ISBN 978-1-56368-104-2 
  33. ^ Wright V 2007 I was blind but now I can see Authorhouse ISBN 978-1-4208-9101-0 
  34. ^ Wright V 2007 Through my eyes Pipers' Ash Ltd ISBN 978-1-904494-86-7 
  35. ^ Boardman LS 1985 My son has Usher's Syndrome Foundation Fighting Blindness B0007207IG 
  36. ^ "Who's Fuzzy" Fuzzy Wuzzy Design 
  37. ^ "Obituary: Spencer Tracy's son dies at 82" 
  38. ^ "The Genetic Privacy of Presidential Candidates" New England Journal of Medicine 359: 2192–2193 doi:101056/NEJMp0808100 
  39. ^ http://wwwnalagaatorgil/homephp

Additional readingedit

  • Stiefel SH, Lewis RA 1991 The Madness of Usher's: Coping With Vision and Hearing Loss/Usher Syndrome Type II Business of Living Publications ISBN 978-1-879518-06-3 
  • Duncan E, Prickett HT 1988 Usher's Syndrome: What It Is, How to Cope, and How to Help Charles C Thomas ISBN 978-0-398-05481-6 
  • Vernon M 1986 Answers to your questions about Usher's syndrome retinitis pigmentosa with hearing loss Foundation Fighting Blindness ASIN B00071QLJ6 
  • Vernon M 1969 Usher's syndrome: Deafness and progressive blindness : clinical cases, prevention, theory and literature survey Pergamon Press ASIN B0007JHOJ4 

External linksedit

General informationedit

  • GeneReviews/NCBI/NIH/UW entry on Usher Syndrome Type I
  • GeneReviews/NCBI/NIH/UW entry on Usher Syndrome Type II
  • Usher syndrome in the Swedish Rare Disease Database
  • General overview from the NIH
  • Usher Syndrome Information from the National Institute on Deafness and Other Communication Disorders NIDCD
  • Usher syndrome Information from Sense, a British organization for deafblind people
  • Scientific review of Usher 1
  • Scientific review of Usher 2
  • Usher Syndrome Selected Topics - National Consortium On Deaf-Blindness

Resourcesedit

  • Usher syndrome Resource Guide from the National Institute on Deafness and Other Communication Disorders NIDCD
  • Usher Syndrome Coalition
  • USH Trust, the largest international Usher syndrome registry in the world
  • USH Blue Book, connecting individuals with Usher syndrome, family members and friends in a global network of support
  • University of Iowa Stephen A Wynn Institute for Vision Research
  • Boys Town National Research Hospital
  • Hear See Hope
  • Usher III Initiative
  • Usher syndrome mailing list

Mutationsedit

  • Mutations in USH1C

usher syndrome, usher syndrome coalition, usher syndrome diagnosis, usher syndrome gene, usher syndrome hearing loss, usher syndrome pictures, usher syndrome symptoms, usher syndrome treatment, usher syndrome type 2, usher syndrome type 3


Usher syndrome Information about

Usher syndrome


  • user icon

    Usher syndrome beatiful post thanks!

    29.10.2014


Usher syndrome
Usher syndrome
Usher syndrome viewing the topic.
Usher syndrome what, Usher syndrome who, Usher syndrome explanation

There are excerpts from wikipedia on this article and video

Random Posts

Timeline beyond October following the September 11 attacks

Timeline beyond October following the September 11 attacks

The following list contains certain dates beyond October 2001 involving the September 11 attacks ...
Smash Hits

Smash Hits

Smash Hits was a pop music magazine, aimed at teenagers and young adults and originally published in...
2014–15 USC Trojans women's basketball team

2014–15 USC Trojans women's basketball team

The 2014–15 USC Trojans women's basketball team will represent University of Southern California dur...
Trademark classification

Trademark classification

A trademark classification is a way the trademark examiners and applicants' trademark attorneys arra...