Usher syndrome type 2A
- Synonyms
- RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF; USHER SYNDROME, TYPE IIA
Summary
Excerpted from the GeneReview: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.
- 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 Koenekoop
- Moises Arriaga
- Karmen M Trzupek
- view full author information
Available tests
78 tests are in the database for this condition.
Clinical tests (78 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of the eye
- Rod-cone dystrophy
Rod-cone dystrophy
- MedGen UID: 1632921
- Concept ID: C4551714
- Finding: Disease or Syndrome
Abnormality of the eye
- Rod-cone dystrophy
- Ear malformation
- Congenital sensorineural hearing impairment
Congenital sensorineural hearing impairment
- MedGen UID: 356101
- Concept ID: C1865866
- Finding: Disease or Syndrome
Ear malformation
- Congenital sensorineural hearing impairment
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