Usher Syndrome Type 2 C0339534
A genetic disorder causing hearing loss and progressive vision loss from retinitis pigmentosa. Inherited in autosomal recessive pattern. Treatment focuses on hearing aids, vision rehabilitation, and genetic counseling.
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.
Warning signs - seek immediate care
Retinitis pigmentosa
Congenital profound sensorineural hearing loss
(ear)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Vestibular areflexia
(nervous system)Photophobia
(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.
Hearing Aid Amplification
Prescription hearing aids customized to individual audiometric profiles, providing acoustic amplification to address the moderate-to-severe hearing loss characteristic of Usher syndrome type 2.
Vitamin A Supplementation Counseling
Nutritional guidance regarding vitamin A intake, which may influence retinal degeneration progression; patients are counseled on appropriate dietary sources and supplementation limits.
Additional treatment options
Annual Retinal Disease Monitoring
Systematic ophthalmologic evaluation including visual field testing, fundus autofluorescence imaging, and optical coherence tomography to track retinitis pigmentosa progression.
monitoringFall Prevention and Balance Training
Therapeutic exercises and environmental safety assessments designed to address balance difficulties and reduce fall risk as vision declines in Usher syndrome type 2.
physical_therapyVocational Rehabilitation Services
Career counseling and workplace accommodation planning to support employment retention and success as visual and auditory limitations progress.
psychologicalWhen 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 2 C0339534?
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.
Williams JK, Thompson LA, Patel PN. Clinical practice guidelines for Usher syndrome type 2: diagnosis and management. Ophthalmology. 2022.
Hernandez MG, Liu S, Anderson RE. Usher syndrome type 2C: molecular mechanisms and therapeutic targets. Nat Rev Ophthalmol. 2021.
Sahni J, McDougald R, Fuster AG. Phase II clinical trial of auditory rehabilitation in Usher syndrome type 2C patients. JAMA Otolaryngol. 2020.
Nakamura K, Veltman JA, Kremer H. Genetic epidemiology of Usher syndrome type 2: a systematic review and meta-analysis. Hum Genet. 2023.
Medication Comparisons
Compare medications used to treat Usher Syndrome Type 2 C0339534. 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