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Usher syndrome type 1B(USH1B)

MedGen UID:
419358
Concept ID:
C2931206
Disease or Syndrome
Synonyms: USH1B; Usher syndrome type IB
 
Related gene: USH1C
 
Monarch Initiative: MONDO:0700087

Definition

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.

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.

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.

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.

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. [from MedlinePlus Genetics]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Ivanova ME, Trubilin VN, Atarshchikov DS, Demchinsky AM, Strelnikov VV, Tanas AS, Orlova OM, Machalov AS, Overchenko KV, Markova TV, Golenkova DM, Anoshkin KI, Volodin IV, Zaletaev DV, Pulin AA, Nadelyaeva II, Kalinkin AI, Barh D
Ophthalmic Genet 2018 Dec;39(6):706-713. Epub 2018 Oct 25 doi: 10.1080/13816810.2018.1532527. PMID: 30358468
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Recent clinical studies

Etiology

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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
Hum Genet 2005 Mar;116(4):292-9. Epub 2005 Jan 20 doi: 10.1007/s00439-004-1227-2. PMID: 15660226
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Diagnosis

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Sci Rep 2022 Jun 16;12(1):10036. doi: 10.1038/s41598-022-13689-x. PMID: 35710827Free PMC Article
Ivanova ME, Trubilin VN, Atarshchikov DS, Demchinsky AM, Strelnikov VV, Tanas AS, Orlova OM, Machalov AS, Overchenko KV, Markova TV, Golenkova DM, Anoshkin KI, Volodin IV, Zaletaev DV, Pulin AA, Nadelyaeva II, Kalinkin AI, Barh D
Ophthalmic Genet 2018 Dec;39(6):706-713. Epub 2018 Oct 25 doi: 10.1080/13816810.2018.1532527. PMID: 30358468
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Therapy

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Prognosis

Subirà O, Català-Mora J, Del Prado C, Díaz-Cascajosa J, Barraso Rodrigo M, Cobos E, Aguilera C, Esteve-Garcia A, García-Arumí J, Caminal JM
Graefes Arch Clin Exp Ophthalmol 2024 Oct;262(10):3375-3384. Epub 2024 Jun 13 doi: 10.1007/s00417-024-06545-3. PMID: 38871877
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Jacobson SG, Aleman TS, Sumaroka A, Cideciyan AV, Roman AJ, Windsor EA, Schwartz SB, Rehm HL, Kimberling WJ
Invest Ophthalmol Vis Sci 2009 Apr;50(4):1886-94. Epub 2008 Dec 13 doi: 10.1167/iovs.08-3122. PMID: 19074810
Boulouiz R, Li Y, Abidi O, Bolz H, Chafik A, Kubisch C, Roub H, Wollnik B, Barakat A
Mol Vis 2007 Oct 2;13:1862-5. PMID: 17960123

Clinical prediction guides

Ivanova ME, Trubilin VN, Atarshchikov DS, Demchinsky AM, Strelnikov VV, Tanas AS, Orlova OM, Machalov AS, Overchenko KV, Markova TV, Golenkova DM, Anoshkin KI, Volodin IV, Zaletaev DV, Pulin AA, Nadelyaeva II, Kalinkin AI, Barh D
Ophthalmic Genet 2018 Dec;39(6):706-713. Epub 2018 Oct 25 doi: 10.1080/13816810.2018.1532527. PMID: 30358468
Sakai T, Jung HS, Sato O, Yamada MD, You DJ, Ikebe R, Ikebe M
J Biol Chem 2015 Jul 10;290(28):17587-98. Epub 2015 May 22 doi: 10.1074/jbc.M114.599365. PMID: 26001786Free PMC Article
Jacobson SG, Cideciyan AV, Gibbs D, Sumaroka A, Roman AJ, Aleman TS, Schwartz SB, Olivares MB, Russell RC, Steinberg JD, Kenna MA, Kimberling WJ, Rehm HL, Williams DS
Invest Ophthalmol Vis Sci 2011 Oct 7;52(11):7924-36. doi: 10.1167/iovs.11-8313. PMID: 21873662Free PMC Article
Boulouiz R, Li Y, Abidi O, Bolz H, Chafik A, Kubisch C, Roub H, Wollnik B, Barakat A
Mol Vis 2007 Oct 2;13:1862-5. PMID: 17960123
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
Hum Genet 2005 Mar;116(4):292-9. Epub 2005 Jan 20 doi: 10.1007/s00439-004-1227-2. PMID: 15660226

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