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Usher syndrome, type 3(USH3)

MedGen UID:
339336
Concept ID:
C1568248
Disease or Syndrome
Synonyms: USH3; Usher Syndrome Type 3A; Usher syndrome, type 3A; Usher Syndrome, Type III; USHER SYNDROME, TYPE IIIA
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene: CLRN1
Cytogenetic location: 3q25.1
OMIM®: 276902
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 GHR
Usher syndrome is a condition characterized by hearing loss or deafness and progressive vision loss. 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 deteriorate. Night vision loss 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 of Usher syndrome, vision is further impaired by clouding of the lens of the eye (cataracts). Many people with retinitis pigmentosa retain some central vision throughout their lives, however. Researchers have identified three major types of Usher syndrome, designated as types I, II, and III. These types are distinguished by their severity and the age when signs and symptoms appear. Type I is further divided into seven distinct subtypes, designated as types IA through IG. Usher syndrome type II has at least three described subtypes, designated as types IIA, IIB, and IIC. Individuals with Usher syndrome type I are typically born completely deaf or lose most of their hearing within the first year of life. Progressive vision loss caused by retinitis pigmentosa becomes apparent in childhood. This type of Usher syndrome also includes problems with the inner ear that affect balance. As a result, children with the condition begin sitting independently and walking later than usual. 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 high tones. Affected children have problems hearing 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. Unlike other forms of Usher syndrome, people with type II do not have difficulties with balance caused by inner ear problems. People with Usher syndrome type III experience progressive hearing loss and vision loss beginning in the first few decades of life. Unlike the other forms of Usher syndrome, infants with Usher syndrome type III are usually born with normal hearing. Hearing loss typically begins during late childhood or adolescence, after the development of speech, and progresses over time. By middle age, most affected individuals are profoundly deaf. Vision loss caused by retinitis pigmentosa also develops in late childhood or adolescence. People with Usher syndrome type III may also experience difficulties with balance due to inner ear problems. These problems vary among affected individuals, however.  http://ghr.nlm.nih.gov/condition/usher-syndrome

Clinical features

Decreased central vision
MedGen UID:
461148
Concept ID:
C3149798
Finding
Retinitis pigmentosa
MedGen UID:
504473
Concept ID:
CN000477
Finding
Hereditary degeneration and atrophy of the retina.
Night blindness
MedGen UID:
504543
Concept ID:
CN000623
Finding
Inability to see well at night or in poor light.
Visual field defect
MedGen UID:
504735
Concept ID:
CN001055
Finding
Vestibular dysfunction
MedGen UID:
334848
Concept ID:
C1843865
Finding
Sensorineural hearing impairment
MedGen UID:
504436
Concept ID:
CN000380
Finding
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews

Professional guidelines

PubMed

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

Recent clinical studies

Etiology

Blanco-Kelly F, Jaijo T, Aller E, Avila-Fernandez A, López-Molina MI, Giménez A, García-Sandoval B, Millán JM, Ayuso C
JAMA Ophthalmol 2015 Feb;133(2):157-64. doi: 10.1001/jamaophthalmol.2014.4498. PMID: 25375654
Bujakowska KM, Consugar M, Place E, Harper S, Lena J, Taub DG, White J, Navarro-Gomez D, Weigel DiFranco C, Farkas MH, Gai X, Berson EL, Pierce EA
Invest Ophthalmol Vis Sci 2014 Dec 2;55(12):8488-96. doi: 10.1167/iovs.14-15169. PMID: 25468891Free 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
Oishi M, Oishi A, Gotoh N, Ogino K, Higasa K, Iida K, Makiyama Y, Morooka S, Matsuda F, Yoshimura N
Invest Ophthalmol Vis Sci 2014 Oct 16;55(11):7369-75. doi: 10.1167/iovs.14-15458. PMID: 25324289
Roeseler DA, Sachdev S, Buckley DM, Joshi T, Wu DK, Xu D, Hannink M, Waters ST
PLoS One 2012;7(11):e47366. Epub 2012 Nov 8 doi: 10.1371/journal.pone.0047366. PMID: 23144817Free PMC Article

Diagnosis

Blanco-Kelly F, Jaijo T, Aller E, Avila-Fernandez A, López-Molina MI, Giménez A, García-Sandoval B, Millán JM, Ayuso C
JAMA Ophthalmol 2015 Feb;133(2):157-64. doi: 10.1001/jamaophthalmol.2014.4498. PMID: 25375654
Bujakowska KM, Consugar M, Place E, Harper S, Lena J, Taub DG, White J, Navarro-Gomez D, Weigel DiFranco C, Farkas MH, Gai X, Berson EL, Pierce EA
Invest Ophthalmol Vis Sci 2014 Dec 2;55(12):8488-96. doi: 10.1167/iovs.14-15169. PMID: 25468891Free 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
Oishi M, Oishi A, Gotoh N, Ogino K, Higasa K, Iida K, Makiyama Y, Morooka S, Matsuda F, Yoshimura N
Invest Ophthalmol Vis Sci 2014 Oct 16;55(11):7369-75. doi: 10.1167/iovs.14-15458. PMID: 25324289
Sadeghi AM, Cohn ES, Kimberling WJ, Halvarsson G, Möller C
Int J Audiol 2013 Dec;52(12):832-7. Epub 2013 Oct 28 doi: 10.3109/14992027.2013.839885. [Epub ahead of print] PMID: 24160897

Therapy

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
Zallocchi M, Binley K, Lad Y, Ellis S, Widdowson P, Iqball S, Scripps V, Kelleher M, Loader J, Miskin J, Peng YW, Wang WM, Cheung L, Delimont D, Mitrophanous KA, Cosgrove D
PLoS One 2014;9(4):e94272. Epub 2014 Apr 4 doi: 10.1371/journal.pone.0094272. PMID: 24705452Free PMC Article
Nagel-Wolfrum K, Baasov T, Wolfrum U
Adv Exp Med Biol 2014;801:741-7. doi: 10.1007/978-1-4614-3209-8_93. PMID: 24664766
Sadeghi AM, Cohn ES, Kimberling WJ, Halvarsson G, Möller C
Int J Audiol 2013 Dec;52(12):832-7. Epub 2013 Oct 28 doi: 10.3109/14992027.2013.839885. [Epub ahead of print] PMID: 24160897
Ratnam K, Västinsalo H, Roorda A, Sankila EM, Duncan JL
JAMA Ophthalmol 2013 Jan;131(1):67-74. doi: 10.1001/2013.jamaophthalmol.2. PMID: 22964989

Prognosis

Blanco-Kelly F, Jaijo T, Aller E, Avila-Fernandez A, López-Molina MI, Giménez A, García-Sandoval B, Millán JM, Ayuso C
JAMA Ophthalmol 2015 Feb;133(2):157-64. doi: 10.1001/jamaophthalmol.2014.4498. PMID: 25375654
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
Oishi M, Oishi A, Gotoh N, Ogino K, Higasa K, Iida K, Makiyama Y, Morooka S, Matsuda F, Yoshimura N
Invest Ophthalmol Vis Sci 2014 Oct 16;55(11):7369-75. doi: 10.1167/iovs.14-15458. PMID: 25324289
Jatana KR, Thomas D, Weber L, Mets MB, Silverman JB, Young NM
Otol Neurotol 2013 Apr;34(3):484-9. doi: 10.1097/MAO.0b013e3182877ef2. PMID: 23442567
Geng R, Melki S, Chen DH, Tian G, Furness DN, Oshima-Takago T, Neef J, Moser T, Askew C, Horwitz G, Holt JR, Imanishi Y, Alagramam KN
J Neurosci 2012 Jul 11;32(28):9485-98. doi: 10.1523/JNEUROSCI.0311-12.2012. PMID: 22787034Free PMC Article

Clinical prediction guides

Oishi M, Oishi A, Gotoh N, Ogino K, Higasa K, Iida K, Makiyama Y, Morooka S, Matsuda F, Yoshimura N
Invest Ophthalmol Vis Sci 2014 Oct 16;55(11):7369-75. doi: 10.1167/iovs.14-15458. PMID: 25324289
Lenassi E, Saihan Z, Cipriani V, Le Quesne Stabej P, Moore AT, Luxon LM, Bitner-Glindzicz M, Webster AR
Ophthalmology 2014 Feb;121(2):580-7. Epub 2013 Nov 5 doi: 10.1016/j.ophtha.2013.09.017. [Epub ahead of print] PMID: 24199935
Sadeghi AM, Cohn ES, Kimberling WJ, Halvarsson G, Möller C
Int J Audiol 2013 Dec;52(12):832-7. Epub 2013 Oct 28 doi: 10.3109/14992027.2013.839885. [Epub ahead of print] PMID: 24160897
Grati M, Shin JB, Weston MD, Green J, Bhat MA, Gillespie PG, Kachar B
J Neurosci 2012 Oct 10;32(41):14288-93. doi: 10.1523/JNEUROSCI.3071-12.2012. PMID: 23055499Free PMC Article
Geng R, Melki S, Chen DH, Tian G, Furness DN, Oshima-Takago T, Neef J, Moser T, Askew C, Horwitz G, Holt JR, Imanishi Y, Alagramam KN
J Neurosci 2012 Jul 11;32(28):9485-98. doi: 10.1523/JNEUROSCI.0311-12.2012. PMID: 22787034Free PMC Article

Recent systematic reviews

Lichtinger A, Chowers I, Amer R
Graefes Arch Clin Exp Ophthalmol 2010 Oct;248(10):1481-5. Epub 2010 Jun 24 doi: 10.1007/s00417-010-1429-3. [Epub ahead of print] PMID: 20574746
Smith RJ, Berlin CI, Hejtmancik JF, Keats BJ, Kimberling WJ, Lewis RA, Möller CG, Pelias MZ, Tranebjaerg L
Am J Med Genet 1994 Mar 1;50(1):32-8. doi: 10.1002/ajmg.1320500107. PMID: 8160750

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