Usher syndrome type 1
- Synonyms
- Retinitis pigmentosa and congenital deafness; Usher syndrome, type I, French variety
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview: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.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Robert K Koenekoop
- Moises A Arriaga
- Karmen M Trzupek
- view full author information
Available tests
61 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of the eye
- Abnormal electroretinogram
Abnormal electroretinogram
- MedGen UID: 96908
- Concept ID: C0476397
- Finding: Finding
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Rod-cone dystrophy
Rod-cone dystrophy
- MedGen UID: 1632921
- Concept ID: C4551714
- Finding: Disease or Syndrome
Abnormality of the eye
- Undetectable electroretinogram
Undetectable electroretinogram
- MedGen UID: 383742
- Concept ID: C1855685
- Finding: Finding
Abnormality of the eye
- Visual loss
Visual loss
- MedGen UID: 784038
- Concept ID: C3665386
- Finding: Finding
Abnormality of the eye
- Abnormal electroretinogram
- Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Motor delay
- Ear malformation
- Absent vestibular function
Absent vestibular function
- MedGen UID: 870219
- Concept ID: C4024656
- Finding: Finding
Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Absent vestibular function
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