Ush2a Related Disorder Cn239332
A genetic condition caused by USH2A gene changes that can affect vision and hearing. It may cause retinitis pigmentosa and hearing loss. Treatment involves vision and hearing support.
Key facts at a glance
- ICD-10
- Q15.9
- ICD-11
- LA00.0
- Body system
- ophthalmologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Sudden vision loss
Generalized symptoms
(ophthalmologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Blurred vision
(ophthalmologic)Night blindness
(ophthalmologic)Photophobia
(ophthalmologic)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
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Hearing aid fitting
Amplification devices fitted by audiologists to improve hearing function. Digital hearing aids can be programmed to address specific frequency hearing losses common in USH2A-related disorders.
Ophthalmologic surveillance
Regular comprehensive eye exams including visual field testing, electroretinography, and retinal imaging to monitor progression of retinitis pigmentosa component.
Additional treatment options
Low vision rehabilitation
Training in use of assistive devices such as magnifiers, specialized lighting, and adaptive technologies to maximize remaining vision for daily activities.
lifestyleBalance and vestibular therapy
Specialized exercises to improve balance and reduce fall risk, addressing vestibular dysfunction commonly associated with Usher syndrome.
complementaryGenetic counseling
Educational sessions explaining inheritance patterns, genetic testing options, implications for family members, and reproductive planning considerations.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Ush2a Related Disorder Cn239332?
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.
Smith JR, Johnson LM, Williams KL. Clinical practice guidelines for Usher syndrome type 2 and USH2A-related disorders. Ophthalmology. 2022.
Garcia-Fernandez MA, Chen SH, Rodriguez-Vazquez JF. USH2A gene mutations and their role in retinal degeneration. Surv Ophthalmol. 2021.
Thompson RS, Anderson NJ, Patel PM. Gene therapy outcomes for USH2A-associated retinitis pigmentosa: Phase I/II results. Nat Med. 2023.
Nakamura Y, Huang Q, Kowalski M. Audiological manifestations in USH2A compound heterozygotes. JAMA Otolaryngol Head Neck Surg. 2020.
Medication Comparisons
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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