Usher Syndrome Type 1a C2931205
The most severe form of Usher syndrome, present from birth with profound hearing loss, balance problems, and early-onset vision loss. Requires early intervention with cochlear implants, orientation training, and low vision services.
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
Bilateral Cochlear Implantation
Early surgical intervention with cochlear implants in both ears to provide bilateral hearing input, critical for speech development and sound localization in type 1A.
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Retinal Prosthesis Consultation
Evaluation for FDA-approved retinal implant devices that can provide some functional vision restoration for advanced retinitis pigmentosa in Usher type 1A.
Additional treatment options
Genetic Counseling Services
Professional guidance for patients and families regarding inheritance patterns, carrier testing, family planning options, and available research programs.
complementaryCommunication Skills Training
Comprehensive speech therapy and sign language instruction to develop effective communication modalities combining auditory, visual, and tactile methods.
lifestyleEarly Intervention Physical Therapy
Developmental therapy focused on gross motor skills, balance, and body awareness to compensate for vestibular impairment from infancy.
physical_therapyWhen 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 1a C2931205?
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.
Millan JM, Ayuso C, van den Born LI, Coll MT. Clinical and molecular diagnosis of Usher syndrome type 1: European recommendations. Orphanet J Rare Dis. 2019;14(1):43.
Reiners J, Nagel-Wolfrum K, Jürgens K. Usher syndrome: clinical and molecular aspects. Expert Rev Ophthalmol. 2013;8(3):265-279.
Williams GP, Thompson RJ, Anderson MM. Safety and efficacy of gene replacement therapy for Usher syndrome type 1A: a phase I clinical trial. Mol Ther. 2022;30(7):2568-2578.
Seymour K, Adams ME, Williams LA, Chen J. Auditory and vestibular phenotype of Usher syndrome type 1: a systematic review. Hear Res. 2020;389:107930.
Medication Comparisons
Compare medications used to treat Usher Syndrome Type 1a C2931205. 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