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Usher syndrome type 3

MedGen UID:
339336
Concept ID:
C1568248
Disease or Syndrome
Synonym: Usher Syndrome, Type III
SNOMED CT: Usher syndrome type 3 (1010610007); Retinitis pigmentosa-deafness syndrome type 3 (1010610007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Related genes: CLRN1, HARS1
 
Monarch Initiative: MONDO:0016485
Orphanet: ORPHA231183

Definition

Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1985; Pakarinen et al., 1995). For a discussion of phenotypic heterogeneity of Usher syndrome, see USH1 (276900). Genetic Heterogeneity of Usher syndrome Type III Usher syndrome type IIIB (614504) is caused by mutation in the HARS gene (142810) on chromosome 5q31.3. [from OMIM]

Additional description

From MedlinePlus Genetics
People with Usher syndrome type III experience hearing loss and vision loss beginning somewhat later in life. Unlike the other forms of Usher syndrome, type III is usually associated with normal hearing at birth. Hearing loss typically begins during late childhood or adolescence, after the development of speech, and becomes more severe over time. By middle age, most affected individuals have profound hearing loss. Vision loss caused by retinitis pigmentosa also develops in late childhood or adolescence. Some people with Usher syndrome type III develop vestibular abnormalities that cause problems with balance.

Usher syndrome type II is characterized by hearing loss from birth and progressive vision loss that begins in adolescence or adulthood. The hearing loss associated with this form of Usher syndrome ranges from mild to severe and mainly affects the ability to hear high-frequency sounds. For example, it is difficult for affected individuals to hear high, soft speech sounds, such as those of the letters d and t. The degree of hearing loss varies within and among families with this condition, and it may become more severe over time. Unlike the other forms of Usher syndrome, type II is not associated with vestibular abnormalities that cause difficulties with balance.

Most individuals with Usher syndrome type I are born with severe to profound hearing loss. Worsening vision loss caused by retinitis pigmentosa becomes apparent in childhood. This type of Usher syndrome also causes abnormalities of the vestibular system, which is the part of the inner ear that helps maintain the body's balance and orientation in space. As a result of the vestibular abnormalities, children with the condition have trouble with balance. They begin sitting independently and walking later than usual, and they may have difficulty riding a bicycle and playing certain sports.

Researchers have identified three major types of Usher syndrome, designated as types I, II, and III. These types are distinguished by the severity of hearing loss, the presence or absence of balance problems, and the age at which signs and symptoms appear. The types are further divided into subtypes based on their genetic cause.

Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. The hearing loss is classified as sensorineural, which means that it is caused by abnormalities of the inner ear. The loss of vision is caused by an eye disease called retinitis pigmentosa (RP), which affects the layer of light-sensitive tissue at the back of the eye (the retina). Vision loss occurs as the light-sensing cells of the retina gradually break down. Loss of night vision begins first, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision. In some cases, vision is further impaired by clouding of the lens of the eye (cataracts). However, many people with retinitis pigmentosa retain some central vision throughout their lives.  https://medlineplus.gov/genetics/condition/usher-syndrome

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Usher syndrome type 3 in Orphanet.

Professional guidelines

PubMed

Stephenson KAJ, Whelan L, Zhu J, Dockery A, Wynne NC, Cairns RM, Kirk C, Turner J, Duignan ES, O'Byrne JJ, Silvestri G, Kenna PF, Farrar GJ, Keegan DJ
Invest Ophthalmol Vis Sci 2023 Jul 3;64(10):23. doi: 10.1167/iovs.64.10.23. PMID: 37466950Free PMC Article
Broderick C, Kobayashi S, Suto M, Ito S, Kobayashi T
Cochrane Database Syst Rev 2023 Jan 25;1(1):CD014884. doi: 10.1002/14651858.CD014884.pub2. PMID: 36695415Free PMC Article
Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T
Hum Genomics 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. PMID: 36597107Free PMC Article

Curated

Bolz HJ, Roux AF
Eur J Hum Genet 2011 Aug;19(8) Epub 2011 Mar 9 doi: 10.1038/ejhg.2011.15. PMID: 21697857Free PMC Article

American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders

Recent clinical studies

Etiology

Pietola L, Aarnisalo AA, Abdel-Rahman A, Västinsalo H, Isosomppi J, Löppönen H, Kentala E, Johansson R, Valtonen H, Vasama JP, Sankila EM, Jero J
Otol Neurotol 2012 Jan;33(1):38-41. doi: 10.1097/MAO.0b013e31823dbc56. PMID: 22143301
Plantinga RF, Pennings RJ, Huygen PL, Sankila EM, Tuppurainen K, Kleemola L, Cremers CW, Deutman AF
Acta Ophthalmol Scand 2006 Feb;84(1):36-41. doi: 10.1111/j.1600-0420.2005.00507.x. PMID: 16445437

Diagnosis

Xu L, Bolch SN, Santiago CP, Dyka FM, Akil O, Lobanova ES, Wang Y, Martemyanov KA, Hauswirth WW, Smith WC, Handa JT, Blackshaw S, Ash JD, Dinculescu A
J Pathol 2020 Feb;250(2):195-204. Epub 2019 Dec 4 doi: 10.1002/path.5360. PMID: 31625146Free PMC Article
Li T, Feng Y, Liu Y, He C, Liu J, Chen H, Deng Y, Li M, Li W, Song J, Niu Z, Sang S, Wen J, Men M, Chen X, Li J, Liu X, Ling J
Gene 2019 Jul 1;704:113-120. Epub 2019 Apr 8 doi: 10.1016/j.gene.2019.04.008. PMID: 30974196
Yoshimura H, Oshikawa C, Nakayama J, Moteki H, Usami S
Ann Otol Rhinol Laryngol 2015 May;124 Suppl 1:94S-9S. Epub 2015 Mar 5 doi: 10.1177/0003489415574069. PMID: 25743179
Eisenberger T, Slim R, Mansour A, Nauck M, Nürnberg G, Nürnberg P, Decker C, Dafinger C, Ebermann I, Bergmann C, Bolz HJ
Orphanet J Rare Dis 2012 Sep 2;7:59. doi: 10.1186/1750-1172-7-59. PMID: 22938382Free PMC Article

Therapy

Pietola L, Aarnisalo AA, Abdel-Rahman A, Västinsalo H, Isosomppi J, Löppönen H, Kentala E, Johansson R, Valtonen H, Vasama JP, Sankila EM, Jero J
Otol Neurotol 2012 Jan;33(1):38-41. doi: 10.1097/MAO.0b013e31823dbc56. PMID: 22143301

Prognosis

Li T, Feng Y, Liu Y, He C, Liu J, Chen H, Deng Y, Li M, Li W, Song J, Niu Z, Sang S, Wen J, Men M, Chen X, Li J, Liu X, Ling J
Gene 2019 Jul 1;704:113-120. Epub 2019 Apr 8 doi: 10.1016/j.gene.2019.04.008. PMID: 30974196
Yoshimura H, Oshikawa C, Nakayama J, Moteki H, Usami S
Ann Otol Rhinol Laryngol 2015 May;124 Suppl 1:94S-9S. Epub 2015 Mar 5 doi: 10.1177/0003489415574069. PMID: 25743179
Geller SF, Guerin KI, Visel M, Pham A, Lee ES, Dror AA, Avraham KB, Hayashi T, Ray CA, Reh TA, Bermingham-McDonogh O, Triffo WJ, Bao S, Isosomppi J, Västinsalo H, Sankila EM, Flannery JG
PLoS Genet 2009 Aug;5(8):e1000607. Epub 2009 Aug 14 doi: 10.1371/journal.pgen.1000607. PMID: 19680541Free PMC Article
Joensuu T, Hämäläinen R, Yuan B, Johnson C, Tegelberg S, Gasparini P, Zelante L, Pirvola U, Pakarinen L, Lehesjoki AE, de la Chapelle A, Sankila EM
Am J Hum Genet 2001 Oct;69(4):673-84. Epub 2001 Aug 27 doi: 10.1086/323610. PMID: 11524702Free PMC Article

Clinical prediction guides

Li T, Feng Y, Liu Y, He C, Liu J, Chen H, Deng Y, Li M, Li W, Song J, Niu Z, Sang S, Wen J, Men M, Chen X, Li J, Liu X, Ling J
Gene 2019 Jul 1;704:113-120. Epub 2019 Apr 8 doi: 10.1016/j.gene.2019.04.008. PMID: 30974196
Pietola L, Aarnisalo AA, Abdel-Rahman A, Västinsalo H, Isosomppi J, Löppönen H, Kentala E, Johansson R, Valtonen H, Vasama JP, Sankila EM, Jero J
Otol Neurotol 2012 Jan;33(1):38-41. doi: 10.1097/MAO.0b013e31823dbc56. PMID: 22143301
Geller SF, Guerin KI, Visel M, Pham A, Lee ES, Dror AA, Avraham KB, Hayashi T, Ray CA, Reh TA, Bermingham-McDonogh O, Triffo WJ, Bao S, Isosomppi J, Västinsalo H, Sankila EM, Flannery JG
PLoS Genet 2009 Aug;5(8):e1000607. Epub 2009 Aug 14 doi: 10.1371/journal.pgen.1000607. PMID: 19680541Free PMC Article
Plantinga RF, Pennings RJ, Huygen PL, Sankila EM, Tuppurainen K, Kleemola L, Cremers CW, Deutman AF
Acta Ophthalmol Scand 2006 Feb;84(1):36-41. doi: 10.1111/j.1600-0420.2005.00507.x. PMID: 16445437
Joensuu T, Hämäläinen R, Yuan B, Johnson C, Tegelberg S, Gasparini P, Zelante L, Pirvola U, Pakarinen L, Lehesjoki AE, de la Chapelle A, Sankila EM
Am J Hum Genet 2001 Oct;69(4):673-84. Epub 2001 Aug 27 doi: 10.1086/323610. PMID: 11524702Free PMC Article

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    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • ACMG ACT, 2011
      American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders
    • EuroGenetest, 2011
      Clinical utility gene card for: Usher syndrome.

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