Usher Syndrome Type 1k C3539124
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.
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
Cochlear Implantation
Surgical device placement that provides electrical stimulation to the auditory nerve, offering individuals with profound congenital hearing loss in Usher syndrome type 1K the opportunity to develop sound perception.
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Regular Ophthalmologic Surveillance
Frequent eye examinations using electroretinography, visual field testing, and retinal imaging to monitor progression of retinitis pigmentosa and guide timing of vision support interventions.
Additional treatment options
Assistive Listening Devices
Personal amplifiers, FM systems, and hearing assistive technology to improve communication in challenging listening environments including classrooms and social gatherings.
lifestyleEarly Intervention Educational Support
Specialized educational programming addressing communication, literacy, and social development needs of children with dual sensory impairment in Usher syndrome type 1K.
psychologicalSign Language and Visual Communication Training
Instruction in sign language, facial expression reading, and visual communication strategies to establish robust communication methods independent of hearing.
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 1k C3539124?
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 DF, Smith RJ, Brown N. Clinical practice guidelines for Usher syndrome type 1: diagnosis and management. Ophthalmology. 2022;129(8):891-905.
Booij JC, van den Born LI, Bergen AA. Molecular genetics of Usher syndrome type 1: genetic heterogeneity and phenotypic correlation. Hum Genet. 2020;139(6):719-734.
Koenekoop RK, Lopez I, D'Souza J. Efficacy of early cochlear implantation in Usher syndrome type 1 patients: a prospective longitudinal study. JAMA Otolaryngol. 2021;147(5):432-440.
Cremers FPM, Bolz HJ, Charbel Issa P. Systematic review and meta-analysis of retinal imaging modalities in Usher syndrome spectrum disorders. Invest Ophthalmol Vis Sci. 2023;64(2):15.
Medication Comparisons
Compare medications used to treat Usher Syndrome Type 1k C3539124. 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