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Usher syndrome type 1F(USH1F)

MedGen UID:
356393
Concept ID:
C1865885
Disease or Syndrome
Synonyms: USH1F; USHER SYNDROME, TYPE IF
 
Gene (location): PCDH15 (10q21.1)
 
Monarch Initiative: MONDO:0011186
OMIM®: 602083

Disease characteristics

Excerpted from the GeneReview: Usher Syndrome Type I
Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). Unless fitted with a cochlear implant, individuals do not typically develop speech. RP, a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity. [from GeneReviews]
Authors:
Robert K Koenekoop  |  Moises A Arriaga  |  Karmen M Trzupek, et. al.   view full author information

Additional descriptions

From OMIM
Usher syndrome constitutes a group of autosomal recessive disorders characterized by progressive pigmentary retinopathy and sensorineural hearing loss. Phenotypic distinctions are based on auditory and vestibular differences. Persons with forms of Usher syndrome type I (276900) have congenital severe to profound hearing loss and vestibular dysfunction.  http://www.omim.org/entry/602083
From MedlinePlus Genetics
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.

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.  https://medlineplus.gov/genetics/condition/usher-syndrome

Clinical features

From HPO
Abnormal vestibular function
MedGen UID:
334848
Concept ID:
C1843865
Finding
An abnormality of the functioning of the vestibular apparatus.
Congenital sensorineural hearing impairment
MedGen UID:
356101
Concept ID:
C1865866
Disease or Syndrome
A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Impaired tandem gait
MedGen UID:
476998
Concept ID:
C3275367
Finding
Reduced ability to walk in a straight line while placing the feet heel to toe.
Rod-cone dystrophy
MedGen UID:
1632921
Concept ID:
C4551714
Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Malm E, Ponjavic V, Möller C, Kimberling WJ, Andréasson S
Ophthalmic Genet 2011 Jun;32(2):65-74. Epub 2010 Dec 21 doi: 10.3109/13816810.2010.536064. PMID: 21174530

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

Yahalom C, Macarov M, Lazer-Derbeko G, Altarescu G, Imbar T, Hyman JH, Eldar-Geva T, Blumenfeld A
Ophthalmic Genet 2018 Aug;39(4):450-456. Epub 2018 May 21 doi: 10.1080/13816810.2018.1474368. PMID: 29781739
Nakashima M, Takano K, Osaka H, Aida N, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N
J Hum Genet 2014 Aug;59(8):471-4. Epub 2014 Jun 26 doi: 10.1038/jhg.2014.51. PMID: 24965255
Le Guédard S, Faugère V, Malcolm S, Claustres M, Roux AF
Mol Vis 2007 Jan 26;13:102-7. PMID: 17277737Free PMC Article

Diagnosis

Yang Z, Huang M, Wei X, Sun J, Zhang F
Mol Genet Genomic Med 2023 Jul;11(7):e2193. Epub 2023 May 25 doi: 10.1002/mgg3.2193. PMID: 37232061Free PMC Article
Chen N, Lee H, Kim AH, Liu PK, Kang EY, Tseng YJ, Seo GH, Khang R, Liu L, Chen KJ, Wu WC, Hsiao MC, Wang NK
BMC Ophthalmol 2022 Nov 16;22(1):441. doi: 10.1186/s12886-022-02659-6. PMID: 36384460Free PMC Article
Yahalom C, Macarov M, Lazer-Derbeko G, Altarescu G, Imbar T, Hyman JH, Eldar-Geva T, Blumenfeld A
Ophthalmic Genet 2018 Aug;39(4):450-456. Epub 2018 May 21 doi: 10.1080/13816810.2018.1474368. PMID: 29781739

Prognosis

Chen N, Lee H, Kim AH, Liu PK, Kang EY, Tseng YJ, Seo GH, Khang R, Liu L, Chen KJ, Wu WC, Hsiao MC, Wang NK
BMC Ophthalmol 2022 Nov 16;22(1):441. doi: 10.1186/s12886-022-02659-6. PMID: 36384460Free PMC Article
Zhan Y, Liu M, Chen D, Chen K, Jiang H
Int J Pediatr Otorhinolaryngol 2015 Jul;79(7):983-6. Epub 2015 Apr 11 doi: 10.1016/j.ijporl.2015.04.002. PMID: 25930172
Chance MR, Chang J, Liu S, Gokulrangan G, Chen DH, Lindsay A, Geng R, Zheng QY, Alagramam K
Hum Mol Genet 2010 Apr 15;19(8):1515-27. Epub 2010 Jan 22 doi: 10.1093/hmg/ddq025. PMID: 20097680Free PMC Article

Clinical prediction guides

Chen N, Lee H, Kim AH, Liu PK, Kang EY, Tseng YJ, Seo GH, Khang R, Liu L, Chen KJ, Wu WC, Hsiao MC, Wang NK
BMC Ophthalmol 2022 Nov 16;22(1):441. doi: 10.1186/s12886-022-02659-6. PMID: 36384460Free PMC Article
Perreault-Micale C, Frieden A, Kennedy CJ, Neitzel D, Sullivan J, Faulkner N, Hallam S, Greger V
J Mol Diagn 2014 Nov;16(6):673-8. doi: 10.1016/j.jmoldx.2014.07.001. PMID: 25307757
Nakashima M, Takano K, Osaka H, Aida N, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N
J Hum Genet 2014 Aug;59(8):471-4. Epub 2014 Jun 26 doi: 10.1038/jhg.2014.51. PMID: 24965255
Chance MR, Chang J, Liu S, Gokulrangan G, Chen DH, Lindsay A, Geng R, Zheng QY, Alagramam K
Hum Mol Genet 2010 Apr 15;19(8):1515-27. Epub 2010 Jan 22 doi: 10.1093/hmg/ddq025. PMID: 20097680Free PMC Article
Alagramam KN, Yuan H, Kuehn MH, Murcia CL, Wayne S, Srisailpathy CR, Lowry RB, Knaus R, Van Laer L, Bernier FP, Schwartz S, Lee C, Morton CC, Mullins RF, Ramesh A, Van Camp G, Hageman GS, Woychik RP, Smith RJ
Hum Mol Genet 2001 Aug 1;10(16):1709-18. doi: 10.1093/hmg/10.16.1709. PMID: 11487575

Supplemental Content

Table of contents

    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.

    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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