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Usher syndrome(RP21, FORMERLY; RP8, FORMERLY)

MedGen UID:
78754
Concept ID:
C0271097
Disease or Syndrome
Synonyms: Usher Syndromes; Usher's syndrome
SNOMED CT: Retinitis pigmentosa-deafness-ataxia syndrome (73119000); Hallgren's syndrome (73119000); Usher syndrome (57838006); Retinitis pigmentosa-deafness syndrome (57838006); Usher's syndrome (57838006)
 
Related genes: USH1G, PCDH15, CDH23, USH1C, CLRN1, MYO7A, HARS1
 
Monarch Initiative: MONDO:0019501
OMIM®: 500004; 590085
OMIM® Phenotypic series: PS276900
Orphanet: ORPHA886

Definition

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.\n\nResearchers 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.\n\nMost 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.\n\nUsher 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.\n\nPeople 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. [from MedlinePlus Genetics]

Term Hierarchy

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

Recent clinical studies

Etiology

Wafa TT, Faridi R, King KA, Zalewski C, Yousaf R, Schultz JM, Morell RJ, Muskett J, Turriff A, Tsilou E, Griffith AJ, Friedman TB, Zein WM, Brewer CC
Clin Genet 2021 Feb;99(2):226-235. Epub 2020 Nov 3 doi: 10.1111/cge.13868. PMID: 33089500Free PMC Article
Xing D, Zhou H, Yu R, Wang L, Hu L, Li Z, Li X
BMC Ophthalmol 2020 Dec 10;20(1):485. doi: 10.1186/s12886-020-01711-7. PMID: 33302902Free PMC Article
Fu J, Cheng J, Zhou Q, Khan MA, Duan C, Peng J, Lv H, Fu J
Mol Med Rep 2020 Oct;22(4):3464-3472. Epub 2020 Aug 3 doi: 10.3892/mmr.2020.11400. PMID: 32945453Free PMC Article
Fu J, Shen S, Cheng J, Lv H, Fu J
J Cell Mol Med 2020 Jul;24(14):7743-7750. Epub 2020 May 25 doi: 10.1111/jcmm.15405. PMID: 32449591Free PMC Article
Pater JA, Green J, O'Rielly DD, Griffin A, Squires J, Burt T, Fernandez S, Fernandez B, Houston J, Zhou J, Roslin NM, Young TL
BMC Med Genet 2019 May 2;20(1):68. doi: 10.1186/s12881-019-0777-z. PMID: 31046701Free PMC Article

Diagnosis

Brodie KD, Moore AT, Slavotinek AM, Meyer AK, Nadaraja GS, Conrad DE, Weinstein JE, Chan DK
Laryngoscope 2021 Jun;131(6):E2053-E2059. Epub 2020 Oct 28 doi: 10.1002/lary.29193. PMID: 33111992
Xing D, Zhou H, Yu R, Wang L, Hu L, Li Z, Li X
BMC Ophthalmol 2020 Dec 10;20(1):485. doi: 10.1186/s12886-020-01711-7. PMID: 33302902Free PMC Article
Fu J, Cheng J, Zhou Q, Khan MA, Duan C, Peng J, Lv H, Fu J
Mol Med Rep 2020 Oct;22(4):3464-3472. Epub 2020 Aug 3 doi: 10.3892/mmr.2020.11400. PMID: 32945453Free PMC Article
Fu J, Shen S, Cheng J, Lv H, Fu J
J Cell Mol Med 2020 Jul;24(14):7743-7750. Epub 2020 May 25 doi: 10.1111/jcmm.15405. PMID: 32449591Free PMC Article
Pater JA, Green J, O'Rielly DD, Griffin A, Squires J, Burt T, Fernandez S, Fernandez B, Houston J, Zhou J, Roslin NM, Young TL
BMC Med Genet 2019 May 2;20(1):68. doi: 10.1186/s12881-019-0777-z. PMID: 31046701Free PMC Article

Therapy

Sethna S, Zein WM, Riaz S, Giese AP, Schultz JM, Duncan T, Hufnagel RB, Brewer CC, Griffith AJ, Redmond TM, Riazuddin S, Friedman TB, Ahmed ZM
Elife 2021 Nov 9;10 doi: 10.7554/eLife.67361. PMID: 34751129Free PMC Article
Baghdadi M, Caldani S, Maudoux A, Audo I, Bucci MP, Wiener-Vacher SR
J Vestib Res 2020;30(4):275-282. doi: 10.3233/VES-200711. PMID: 32925128
Samanta A, Stingl K, Kohl S, Ries J, Linnert J, Nagel-Wolfrum K
Int J Mol Sci 2019 Dec 12;20(24) doi: 10.3390/ijms20246274. PMID: 31842393Free PMC Article
Emptoz A, Michel V, Lelli A, Akil O, Boutet de Monvel J, Lahlou G, Meyer A, Dupont T, Nouaille S, Ey E, Franca de Barros F, Beraneck M, Dulon D, Hardelin JP, Lustig L, Avan P, Petit C, Safieddine S
Proc Natl Acad Sci U S A 2017 Sep 5;114(36):9695-9700. Epub 2017 Aug 23 doi: 10.1073/pnas.1708894114. PMID: 28835534Free PMC Article
Zein WM, Falsini B, Tsilou ET, Turriff AE, Schultz JM, Friedman TB, Brewer CC, Zalewski CK, King KA, Muskett JA, Rehman AU, Morell RJ, Griffith AJ, Sieving PA
Invest Ophthalmol Vis Sci 2014 Nov 25;56(1):107-14. doi: 10.1167/iovs.14-15355. PMID: 25425308Free PMC Article

Prognosis

Wafa TT, Faridi R, King KA, Zalewski C, Yousaf R, Schultz JM, Morell RJ, Muskett J, Turriff A, Tsilou E, Griffith AJ, Friedman TB, Zein WM, Brewer CC
Clin Genet 2021 Feb;99(2):226-235. Epub 2020 Nov 3 doi: 10.1111/cge.13868. PMID: 33089500Free PMC Article
Fu J, Cheng J, Zhou Q, Khan MA, Duan C, Peng J, Lv H, Fu J
Mol Med Rep 2020 Oct;22(4):3464-3472. Epub 2020 Aug 3 doi: 10.3892/mmr.2020.11400. PMID: 32945453Free PMC Article
Fu J, Shen S, Cheng J, Lv H, Fu J
J Cell Mol Med 2020 Jul;24(14):7743-7750. Epub 2020 May 25 doi: 10.1111/jcmm.15405. PMID: 32449591Free PMC Article
Pater JA, Green J, O'Rielly DD, Griffin A, Squires J, Burt T, Fernandez S, Fernandez B, Houston J, Zhou J, Roslin NM, Young TL
BMC Med Genet 2019 May 2;20(1):68. doi: 10.1186/s12881-019-0777-z. PMID: 31046701Free PMC Article
Vezinaw CM, Fishman GA, Chiang J
Doc Ophthalmol 2019 Apr;138(2):161-166. Epub 2019 Feb 22 doi: 10.1007/s10633-019-09677-8. PMID: 30796641

Clinical prediction guides

Wafa TT, Faridi R, King KA, Zalewski C, Yousaf R, Schultz JM, Morell RJ, Muskett J, Turriff A, Tsilou E, Griffith AJ, Friedman TB, Zein WM, Brewer CC
Clin Genet 2021 Feb;99(2):226-235. Epub 2020 Nov 3 doi: 10.1111/cge.13868. PMID: 33089500Free PMC Article
Xing D, Zhou H, Yu R, Wang L, Hu L, Li Z, Li X
BMC Ophthalmol 2020 Dec 10;20(1):485. doi: 10.1186/s12886-020-01711-7. PMID: 33302902Free PMC Article
Fu J, Cheng J, Zhou Q, Khan MA, Duan C, Peng J, Lv H, Fu J
Mol Med Rep 2020 Oct;22(4):3464-3472. Epub 2020 Aug 3 doi: 10.3892/mmr.2020.11400. PMID: 32945453Free PMC Article
Fu J, Shen S, Cheng J, Lv H, Fu J
J Cell Mol Med 2020 Jul;24(14):7743-7750. Epub 2020 May 25 doi: 10.1111/jcmm.15405. PMID: 32449591Free PMC Article
Pater JA, Green J, O'Rielly DD, Griffin A, Squires J, Burt T, Fernandez S, Fernandez B, Houston J, Zhou J, Roslin NM, Young TL
BMC Med Genet 2019 May 2;20(1):68. doi: 10.1186/s12881-019-0777-z. PMID: 31046701Free PMC Article

Recent systematic reviews

Jouret G, Poirsier C, Spodenkiewicz M, Jaquin C, Gouy E, Arndt C, Labrousse M, Gaillard D, Doco-Fenzy M, Lebre AS
Otol Neurotol 2019 Jan;40(1):121-129. doi: 10.1097/MAO.0000000000002054. PMID: 30531642
Nishio SY, Usami SI
Acta Otolaryngol 2017 Jul;137(7):730-742. Epub 2017 Feb 24 doi: 10.1080/00016489.2016.1276303. PMID: 28498079

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