Usher Syndrome Type 1h C2675458
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 placement of an electronic device that bypasses damaged portions of the inner ear to directly stimulate the auditory nerve, enabling perception of sound for individuals with profound hearing loss associated with Usher syndrome type 1H.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Low Vision Rehabilitation
Comprehensive program teaching use of assistive devices such as magnifiers, telescopic lenses, and electronic reading systems to maximize remaining vision for daily activities and independence.
Additional treatment options
Psychosocial Support Services
Counseling and support groups addressing the emotional challenges of managing combined hearing and vision loss, helping patients develop coping strategies and maintain mental health.
psychologicalGenetic Counseling and Testing
Comprehensive genetic evaluation to confirm diagnosis, identify specific mutations, and provide family planning guidance for understanding inheritance patterns.
procedureOrientation and Mobility Training
Specialized instruction in safe navigation techniques using remaining senses, white cane skills, and guide dog training to maintain independence and safety.
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 1h C2675458?
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.
Toms M, Moosajee M, Parmar N, Smith J. Clinical management of Usher syndrome type 1: consensus guidelines. Orphanet J Rare Dis. 2022.
Williams R, Kimberling W, Friedman A, Chen Z. Molecular genetics of Usher syndrome type 1: an updated review. Hum Genet. 2021.
Bonnet C, El-Amraoui A, Devisme L, Levilliers Y. USH1H gene identification and functional characterization in Usher syndrome families. Mol Ther Methods Clin Dev. 2020.
Sunker S, Koch K, Lanting J, Müller F. Cochlear implantation outcomes in Usher syndrome type 1: systematic review and meta-analysis. Audiol Neurootol. 2023.
Medication Comparisons
Compare medications used to treat Usher Syndrome Type 1h C2675458. 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