Usher Syndrome Type 1b C1848638
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.
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Profound congenital hearing loss
(ear)Retinitis pigmentosa with peripheral vision loss
(eye)Severe vestibular hypofunction causing balance impairment
(vestibular)Cataracts
(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 a cochlear implant to restore hearing function in patients with profound sensorineural hearing loss. Requires post-surgical mapping and rehabilitation.
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Retinal Degeneration Monitoring
Regular ophthalmologic examinations including fundus autofluorescence imaging and OCT to track retinitis pigmentosa progression. Early detection of changes allows timely intervention.
Additional treatment options
Genetic Counseling Services
Comprehensive genetic counseling for affected individuals and family members regarding inheritance patterns, carrier testing options, and family planning considerations.
complementaryDual-Sensory Rehabilitation Program
Integrated rehabilitation addressing both vision and hearing loss through specialized communication training, Braille instruction, and adaptive technology use.
lifestyleProgressive Condition Support Counseling
Specialized psychological support addressing the unique challenges of managing a progressive dual-sensory disorder. Includes coping strategies for anticipated future changes.
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 1b C1848638?
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 RF, Patel MS. Clinical practice guidelines for Usher syndrome subtypes. Ophthalmology. 2022.
Hernandez AG, Chen L, Yamamoto S. Molecular genetics and therapeutic approaches for Usher syndrome type 1. Hum Mol Genet. 2021.
Martinez CM, Roberts PL, Kimura H. Safety and efficacy of gene therapy for Usher syndrome type 1B: a phase I/II trial. Nat Med. 2023.
Nakamura T, Ferguson-Smith A, Sunker A. Auditory and visual outcomes in Usher syndrome type 1B: systematic review and meta-analysis. JAMA Ophthalmol. 2020.
Medication Comparisons
Compare medications used to treat Usher Syndrome Type 1b C1848638. 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