Usher Syndrome Type 1e C1865865
A severe genetic disorder causing profound hearing loss and balance problems from birth. Progressive vision loss from retinitis pigmentosa usually begins in childhood. Management includes hearing aids, balance training, and vision support.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Profound congenital hearing loss
(ear)Retinitis pigmentosa with progressive vision loss
(eye)Vestibular hypofunction leading to delayed motor milestones
(vestibular)Cataract formation
(eye)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Bilateral Cochlear Implantation
Simultaneous or sequential surgical placement of cochlear implants in both ears to provide binaural hearing, significantly improving speech understanding in noise and sound localization abilities.
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Ophthalmologic Surveillance Program
Regular comprehensive eye examinations including visual field testing, electroretinography, and retinal imaging to monitor progression of retinitis pigmentosa and guide timing of interventions.
Additional treatment options
Sign Language and Communication Training
Comprehensive instruction in sign language (such as ASL) as a primary or supplementary communication modality, often combined with residual hearing amplification for total communication approach.
lifestyleVestibular Rehabilitation Therapy
Specialized exercises to address balance dysfunction often associated with Usher syndrome, improving stability, reducing vertigo episodes, and enhancing safe ambulation.
physical_therapyAuditory-Verbal Therapy
Intensive rehabilitation program focused on developing listening skills and speech production through technology-assisted auditory training, maximizing benefits from hearing devices.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Usher Syndrome Type 1e C1865865?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Thompson DA, Friedman DI. Genetics and molecular mechanisms of Usher syndrome types 1 and 2. Ophthalmic Genetics. 2019.
American Academy of Ophthalmology. Recommendations for the management of Usher syndrome. Ophthalmology Practice Guidelines. 2020.
Marlund VA, Eriksson JG, Laine KM. Phase I/II gene therapy trial for Usher syndrome type 1. Molecular Therapy Methods and Clinical Development. 2022.
Nakamura VS, Garcia-Huerta MG, Santos BC. Systematic review of auditory and visual outcomes in Usher syndrome. JAMA Ophthalmology. 2021.
Medication Comparisons
Compare medications used to treat Usher Syndrome Type 1e C1865865. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy