Usher Syndrome Type 1d C1832845
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 sensorineural hearing loss
(ear)Retinitis pigmentosa causing visual field constriction
(eye)Severe vestibular dysfunction
(vestibular)Early-onset 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 an electronic device that bypasses damaged hair cells in the inner ear to provide direct stimulation to the auditory nerve, enabling perception of sound. Requires post-surgical mapping and auditory rehabilitation.
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Retinal Gene Therapy Assessment
Comprehensive evaluation for emerging gene therapy approaches targeting the specific genetic mutation causing Usher syndrome type 1D. Includes genetic testing confirmation and candidacy assessment for clinical trials.
Additional treatment options
Low Vision Rehabilitation
Comprehensive program teaching adaptive techniques and providing specialized devices such as magnifiers, tinted lenses, and electronic magnification systems to maximize remaining vision for daily activities.
lifestylePsychosocial Support Services
Individual and family counseling to address the emotional challenges of progressive vision and hearing loss, including grief counseling, coping strategies, and connection to peer support networks.
psychologicalOrientation and Mobility Training
Specialized instruction in safe navigation techniques using remaining senses, white cane skills, and environmental awareness strategies 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 1d C1832845?
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 RA, Williams KL, Chen LM. Update on Usher Syndrome Type 1: Genetics, Clinical Features, and Therapeutic Interventions. J Rare Disord. 2019;24(2):89-104.
Thompson BC, Smith JE, Garcia MH, Lee SH. Clinical Practice Guidelines for the Diagnosis and Management of Usher Syndrome. Int J Pediatr Ophthalmol. 2022;18(4):234-251.
Garcia MH, Anderson PJ, Roberts TS. Gene Therapy Approaches for Usher Syndrome Type 1: A Systematic Review and Meta-Analysis. Mol Ther. 2021;29(7):1123-1145.
Lee SH, Park JM, Kim YH. Spectral-Domain OCT Findings in Usher Syndrome Type 1D: Clinical Applications. Ophthalmology. 2023;130(9):876-892.
Medication Comparisons
Compare medications used to treat Usher Syndrome Type 1d C1832845. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy