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Usher syndrome, type 4(USH4)

MedGen UID:
1648315
•Concept ID:
C4748364
•
Disease or Syndrome
Synonym: USHER SYNDROME, TYPE IV
 
Gene (location): ARSG (17q24.2)
 
Monarch Initiative: MONDO:0029141
OMIM®: 618144

Definition

An atypical form of Usher syndrome, here designated type IV (USH4), is an autosomal recessive disorder characterized by late onset of retinitis pigmentosa and usually late-onset of progressive sensorineural hearing loss without vestibular involvement (summary by Khateb et al., 2018). For a discussion of genetic heterogeneity of Usher syndrome, see 276900. [from OMIM]

Clinical features

From HPO
Sensorineural hearing loss disorder
MedGen UID:
9164
•Concept ID:
C0018784
•
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
See: Feature record | Search on this feature
Progressive sensorineural hearing impairment
MedGen UID:
335894
•Concept ID:
C1843156
•
Disease or Syndrome
A progressive form of sensorineural hearing impairment.
See: Feature record | Search on this feature
Abnormal vestibular function
MedGen UID:
334848
•Concept ID:
C1843865
•
Finding
An abnormality of the functioning of the vestibular apparatus.
See: Feature record | Search on this feature
Night blindness
MedGen UID:
10349
•Concept ID:
C0028077
•
Disease or Syndrome
Inability to see well at night or in poor light.
See: Feature record | Search on this feature
Retinal degeneration
MedGen UID:
48432
•Concept ID:
C0035304
•
Finding
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.
See: Feature record | Search on this feature
Constriction of peripheral visual field
MedGen UID:
68613
•Concept ID:
C0235095
•
Finding
An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.
See: Feature record | Search on this feature
Ring scotoma
MedGen UID:
140951
•Concept ID:
C0438434
•
Finding
An annular field defect centered on fixation.
See: Feature record | Search on this feature
Retinal atrophy
MedGen UID:
101075
•Concept ID:
C0521694
•
Disease or Syndrome
Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.
See: Feature record | Search on this feature
Bone spicule pigmentation of the retina
MedGen UID:
323029
•Concept ID:
C1836926
•
Finding
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
See: Feature record | Search on this feature
Hyperautofluorescent macular lesion
MedGen UID:
893119
•Concept ID:
C4073101
•
Finding
Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
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
Pathogenesis and Treatment of Usher Syndrome Type IIA.
Zaw K, Carvalho LS, Aung-Htut MT, Fletcher S, Wilton SD, Chen FK, McLenachan S
Asia Pac J Ophthalmol (Phila) 2022 Jul-Aug 01;11(4):369-379. Epub 2022 Aug 17 doi: 10.1097/APO.0000000000000546. PMID: 36041150
Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.
Molina-Ramírez LP, Lenassi E, Ellingford JM, Sergouniotis PI, Ramsden SC, Bruce IA, Black GCM
Otol Neurotol 2020 Apr;41(4):431-437. doi: 10.1097/MAO.0000000000002588. PMID: 32176120

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PubMed
      Related literature resources in PubMed

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