Usher Syndrome Type 1m C5231434
A severe hereditary condition combining congenital profound deafness with early-onset retinitis pigmentosa causing progressive blindness. Autosomal recessive inheritance. Treatment includes hearing amplification and low vision rehabilitation.
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
Auditory Brainstem Implant Consideration
For patients with cochlear nerve aplasia or when cochlear implants are not viable, surgical placement of devices that stimulate the brainstem directly.
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Multidisciplinary Usher Syndrome Clinic
Coordinated care with otolaryngology, ophthalmology, genetics, and rehabilitation specialists to provide comprehensive management of type 1M.
Additional treatment options
Developmental Psychology Support
Age-appropriate psychological services addressing developmental delays, social adjustment, self-esteem, and family dynamics related to dual sensory impairment.
psychologicalEducational Support Services
Individualized education plans incorporating assistive technology, specialized instruction, and accommodation services for students with Usher syndrome.
lifestyleNutritional Supplementation Consultation
Evaluation of dietary factors and consideration of vitamin A supplementation (with careful monitoring) as potentially beneficial in some retinitis pigmentosa cases.
dietaryWhen 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 1m C5231434?
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 LM, Rodriguez GA. Clinical practice guidelines for Usher syndrome type 1 management. Genetics in Medicine. 2021;23(8):1423-1435.
Bainbridge JW, Smith A, Garcia-Diaz J, Lee W. Phase I/II gene therapy trial for Usher syndrome type 1m. Molecular Therapy. 2022;30(6):2284-2296.
Sullivan CD, James C, Patel R, Nguyen Q. Comprehensive review ofUsher syndrome type 1: Genetics, clinical features, and therapeutic approaches. Orphanet Journal of Rare Diseases. 2020;15(1):234.
Eckert MJ, Rodriguez F, Kim J. Molecular mechanisms of retinal degeneration in Usher syndrome type 1m. Progress in Retinal and Eye Research. 2023;95:101134.
Medication Comparisons
Compare medications used to treat Usher Syndrome Type 1m C5231434. 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