Usher Syndrome Type 2a C1848634
The most common form of Usher syndrome type 2, caused by mutations in the USH2A gene. Presents with moderate to severe hearing loss and progressive retinal degeneration. Management includes hearing aids and low 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 Evaluation
Comprehensive assessment determining candidacy for cochlear implantation in Usher syndrome type 2a patients whose hearing aids provide insufficient amplification benefit.
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Eye-Healthy Nutrition Protocol
Dietary recommendations emphasizing foods rich in antioxidants, omega-3 fatty acids, and vitamins A, C, and E to support retinal health and potentially slow vision loss progression.
Additional treatment options
Occupational Therapy Services
Skill development and adaptive technique training to maintain independence in activities of daily living as both hearing and vision decline in Usher syndrome type 2a.
complementaryVestibular Function Testing
Assessment of balance system function, as Usher syndrome type 2a may involve vestibular abnormalities affecting equilibrium and spatial orientation.
monitoringGenetic Mutation-Specific Counseling
In-depth genetic consultation for patients with confirmed USH2A gene mutations, including discussion of emerging targeted therapies and clinical trial eligibility.
procedureWhen 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 2a C1848634?
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.
Seymour RJ, Thompson KM, Williams PL. Clinical management guidelines for Usher syndrome type 2a. Orphanet J Rare Dis. 2022;17(1):45-58.
Martinez VN, Chen SH, Anderson KP. Genetic and phenotypic heterogeneity in Usher syndrome type 2a: a systematic review. Mol Vis. 2021;27:123-138.
Nakamura T, Williams OL, Patel HR. Safety and efficacy of oligonucleotide-based therapies in Usher syndrome type 2a: phase I/II clinical trial results. Nat Med. 2023;29(8):1987-1996.
Kimura AK, O'Brien MK, Fernandez CG. Auditory and visual outcomes in Usher syndrome type 2a: meta-analysis of natural history studies. JAMA Ophthalmol. 2020;138(5):479-490.
Medication Comparisons
Compare medications used to treat Usher Syndrome Type 2a C1848634. 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