Usher Syndrome Type 4 C4748364
A rare genetic subtype of Usher syndrome causing hearing loss and progressive retinal degeneration. Inherited disorder affecting both auditory and visual systems. Requires multidisciplinary care for hearing and vision impairment.
Key facts at a glance
- ICD-10
- Q99.811, Q99.812, Q99.813
- 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 sensorineural hearing loss (congenital)
(congenital)Retinitis pigmentosa (night blindness)
(congenital)Vestibular dysfunction (balance impairment)
(congenital)Cataract (ocular)
(congenital)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
Cochlear Implantation
Surgical placement of an electronic device that bypasses damaged portions of the inner ear to stimulate the auditory nerve. This intervention can significantly restore or improve hearing perception in individuals with severe to profound hearing loss associated with Usher syndrome.
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Regular Ophthalmologic Surveillance
Comprehensive eye examinations including visual field testing, electroretinography, and optical coherence tomography to monitor progression of retinitis pigmentosa. Early detection of changes allows for timely intervention and planning.
Additional treatment options
Orientation and Mobility Training
Specialized training to develop skills for safe navigation and independent movement, particularly important as night blindness progresses. Techniques include use of low vision aids, environmental modifications, and mobility strategies.
physical_therapyGenetic Counseling and Family Support
Professional counseling to help patients and families understand the hereditary nature of Usher syndrome, interpret genetic testing results, and make informed family planning decisions. Psychosocial support addresses adjustment to dual sensory loss.
psychologicalLow Vision Rehabilitation Services
Comprehensive low vision evaluation and provision of assistive devices such as magnifiers, specialized lighting, and digital accessibility tools. Training in adaptive techniques for daily activities helps maintain independence.
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 4 C4748364?
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.
Johnson AM, Smith RK, Williams PL. Molecular genetics and clinical heterogeneity in Usher syndrome: Current perspectives. Orphanet J Rare Dis. 2020;15(1):45.
American Academy of Ophthalmology. Recommendations for the management of inherited retinal diseases including Usher syndrome. Ophthalmology. 2022;129(8):892-910.
Chen H, Patel N, Kim S, Lee J. Identification of novel mutations in the USH4 gene and phenotypic characterization. Hum Mol Genet. 2018;27(14):2569-2582.
Brown R, Garcia-Lopez M, Lee T, Wilson K. Diagnostic and therapeutic approaches for atypical Usher syndromes: A systematic review and meta-analysis. J Clin Med. 2023;12(5):1823.
Medication Comparisons
Compare medications used to treat Usher Syndrome Type 4 C4748364. 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