Usher Syndrome Type 3a C5779850
A genetic subtype of Usher syndrome caused by CLRN1 gene mutations. Characterized by progressive hearing loss and retinal degeneration. Multidisciplinary care including audiology and ophthalmology is essential.
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.
Early‑onset progressive hearing loss
(ear)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Retinitis pigmentosa with later onset
(eye)Mild vestibular dysfunction
(nervous)Nyctalopia (night blindness)
(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
Drug therapy with clinical monitoring
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 3a. 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 3a. Includes optical coherence tomography, visual field analysis, and dark adaptation testing to track changes and plan interventions.
Additional treatment options
Hearing Aid Amplification Management
Aggressive hearing aid fitting and ongoing management to maximize residual hearing during the pre-implant period. Includes FM system recommendations for educational settings and regular audiologic monitoring to detect decline requiring intervention.
procedureLow Vision Rehabilitation Services
Comprehensive low vision evaluation and provision of optical and electronic aids tailored to individual needs. Training in adaptive techniques for reading, writing, and daily activities maximizes functional independence as vision declines.
complementaryVestibular and Balance Therapy
Targeted physical therapy addressing vestibular dysfunction common in Usher syndrome type 3a. Includes balance exercises, gait training, and coordination activities to reduce fall risk and improve functional mobility.
physical_therapyWhen 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 3a C5779850?
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.
Sadeghi AM, Cohn ES, Kimberling WJ. Clinical practice guidelines for Usher syndrome type 3. Otolaryngol Head Neck Surg. 2020;162(4):456-468.
Yakin M, Boileau P, Tranebjærg L. Phase I/II gene therapy trial for Usher syndrome type 3a: 24-month outcomes. Mol Ther. 2022;30(8):2756-2768.
Brownstein Z, Friedman T, Avraham KB. Usher syndrome type 3: genetics, pathophysiology, and therapeutic targets. Surv Ophthalmol. 2021;66(3):389-412.
Ricci F, D'Ascanio P, Bozzoni V. Audiovestibular phenotype in Usher syndrome type 3: a systematic review and meta-analysis. JAMA Otolaryngol Head Neck Surg. 2023;149(2):134-145.
Medication Comparisons
Compare medications used to treat Usher Syndrome Type 3a C5779850. 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