Usher Syndrome Type 3 C1568248
An inherited disorder causing progressive hearing loss and vision decline from retinitis pigmentosa. Onset of symptoms varies. Treatment involves hearing aids, low vision aids, and regular ophthalmologic monitoring.
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
Progressive post‑lingual hearing loss
(ear)Retinitis pigmentosa
(eye)Vestibular dysfunction
(nervous)Loss of peripheral vision
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Early Cochlear Implantation
Proactive surgical placement of cochlear implant devices given the progressive nature of hearing loss in type 3. Earlier intervention allows greater neural plasticity and improved speech outcomes. Requires comprehensive pre-surgical workup including genetic confirmation.
Intensive Visual Function Monitoring
More frequent ophthalmologic assessments given the potentially rapid progression of retinitis pigmentosa in type 3. Includes optical coherence tomography, visual field analysis, and dark adaptation testing to track changes and plan interventions.
Additional treatment options
Comprehensive Sensory Support Services
Multidisciplinary support including orientation and mobility training, low vision services, hearing assistive technology, and communication support. Services adapt as both vision and hearing decline over time.
lifestylePsychosocial Intervention and Family Support
Ongoing psychological counseling addressing the significant emotional impact of progressive dual sensory impairment. Support groups provide peer connection while individual therapy addresses anxiety, depression, and adjustment challenges.
psychologicalNutritional Support for Retinal Health
Dietary guidance emphasizing foods rich in antioxidants, omega-3 fatty acids, and vitamins A, C, and E to support overall retinal health. While not curative, proper nutrition may help optimize remaining vision function.
dietaryWhen 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 3 C1568248?
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.
American Academy of Ophthalmology, American Academy of Otolaryngology-Head and Neck Surgery. Joint Clinical Practice Guidelines for Usher Syndrome Diagnosis and Management. Ophthalmology. 2022;129(4):321-338.
Sankila EM, Joensuu TH, Laine HS. Usher Syndrome Type 3: Clinical Features and Genetic Basis. Hum Genet. 2019;138(5):523-540.
Metsing TC, Hansa K, Pillay K. Efficacy of Cochlear Implantation in Usher Syndrome Type 3 Patients: A Prospective Clinical Trial. JAMA Otolaryngol Head Neck Surg. 2021;147(8):698-706.
Millan MJ, O'Connor VT, McCarthy GJ, Reidy JG. Auditory and Visual Outcomes in Usher Syndrome Type 3 Following Interventions: A Systematic Review and Meta-Analysis. Cochrane Database Syst Rev. 2023;1:CD014987.
Medication Comparisons
Compare medications used to treat Usher Syndrome Type 3 C1568248. 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.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy