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Usher syndrome type 2

MedGen UID:
83288
Concept ID:
C0339534
Disease or Syndrome
Synonym: Usher Syndrome, Type II
SNOMED CT: Usher syndrome type 2 (232058008)
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).
 
Monarch Initiative: MONDO:0016484
Orphanet: ORPHA231178

Disease characteristics

Excerpted from the GeneReview: Usher Syndrome Type II
Usher syndrome type II (USH2) is characterized by the following: Congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies. Intact or variable vestibular responses. Retinitis pigmentosa (RP); progressive, bilateral, symmetric retinal degeneration that begins with night blindness and constricted visual fields (tunnel vision) and eventually includes decreased central visual acuity; the rate and degree of vision loss vary within and among families. [from GeneReviews]
Authors:
Robert Koenekoop  |  Moises Arriaga  |  Karmen M Trzupek, et. al.   view full author information

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  

Professional guidelines

PubMed

Tom WA, Chandel DS, Jiang C, Krzyzanowski G, Fernando N, Olou A, Fernando MR
Int J Mol Sci 2024 Sep 17;25(18) doi: 10.3390/ijms25189993. PMID: 39337481Free PMC Article
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
Lear SA, Gasevic D
Nutrients 2019 Dec 19;12(1) doi: 10.3390/nu12010015. PMID: 31861719Free PMC Article

Recent clinical studies

Etiology

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Diagnosis

Heon E, Melia M, Bocchino LE, Samarakoon L, Duncan JL, Ayala AR, Audo I, Bradley C, Cheetham JK, Dagnelie G, Durham TA, Hoyng CB, Jain N, Jayasundera KT, Pennesi ME, Weng CY; Foundation Fighting Blindness Consortium Investigator Group
Am J Ophthalmol 2024 Apr;260:200-211. Epub 2023 Dec 21 doi: 10.1016/j.ajo.2023.12.009. PMID: 38135239
Micevych PS, Wong J, Zhou H, Wang RK, Porco TC, Carroll J, Roorda A, Duncan JL
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Therapy

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Prognosis

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Clinical prediction guides

Heon E, Melia M, Bocchino LE, Samarakoon L, Duncan JL, Ayala AR, Audo I, Bradley C, Cheetham JK, Dagnelie G, Durham TA, Hoyng CB, Jain N, Jayasundera KT, Pennesi ME, Weng CY; Foundation Fighting Blindness Consortium Investigator Group
Am J Ophthalmol 2024 Apr;260:200-211. Epub 2023 Dec 21 doi: 10.1016/j.ajo.2023.12.009. PMID: 38135239
Micevych PS, Wong J, Zhou H, Wang RK, Porco TC, Carroll J, Roorda A, Duncan JL
Am J Ophthalmol 2023 Jun;250:1-11. Epub 2023 Jan 14 doi: 10.1016/j.ajo.2023.01.006. PMID: 36646238Free PMC Article
Gill JS, Theofylaktopoulos V, Mitsios A, Houston S, Hagag AM, Dubis AM, Moosajee M
Int J Mol Sci 2022 Apr 11;23(8) doi: 10.3390/ijms23084198. PMID: 35457016Free PMC Article
Toms M, Dubis AM, de Vrieze E, Tracey-White D, Mitsios A, Hayes M, Broekman S, Baxendale S, Utoomprurkporn N, Bamiou D, Bitner-Glindzicz M, Webster AR, Van Wijk E, Moosajee M
Hum Mol Genet 2020 Jul 21;29(11):1882-1899. doi: 10.1093/hmg/ddaa004. PMID: 31998945Free PMC Article
Zong L, Chen K, Wu X, Liu M, Jiang H
Int J Pediatr Otorhinolaryngol 2016 Nov;90:150-155. Epub 2016 Sep 12 doi: 10.1016/j.ijporl.2016.09.010. PMID: 27729122

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