Usher Syndrome Type 2c C2931213
A rare genetic subtype of Usher syndrome associated with mutations in the PDZD7 gene. Causes sensorineural hearing loss and retinitis pigmentosa. Care involves hearing devices and vision rehabilitation services.
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.
Congenital moderate sensorineural hearing loss
(ear)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Retinitis pigmentosa
(eye)Vestibular dysfunction
(nervous)Night blindness
(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 a device that bypasses damaged hair cells in the inner ear to provide direct electrical stimulation to the auditory nerve, enabling perception of sound. Requires thorough audiologic evaluation and neural imaging prior to the procedure.
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Regular Ophthalmologic Surveillance
Scheduled comprehensive eye examinations including visual field testing, electroretinography, and retinal imaging to monitor progression of retinitis pigmentosa and guide timing of interventions. Typically conducted annually or semi-annually depending on disease stage.
Additional treatment options
Hearing Aid Fitting and Optimization
Professional assessment and fitting of appropriate hearing aid technology, including bone-anchored devices when conventional aids are insufficient. Regular programming adjustments accommodate progressive hearing loss typical of Usher syndrome type 2.
procedureOrientation and Mobility Training
Specialized instruction in safe navigation techniques using low vision aids, environmental modifications, and systematic mobility strategies. Training includes use of white canes, spatial awareness techniques, and adaptive lighting.
lifestyleGenetic Counseling and Psychosocial Support
Comprehensive counseling services addressing the hereditary nature of Usher syndrome, family planning options, and emotional adjustment to progressive dual sensory loss. Support groups connect patients with similar experiences for shared coping strategies.
psychologicalWhen 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 2c C2931213?
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 JM, Thompson KL, Patel PN. Clinical practice guidelines for Usher syndrome type 2: diagnosis and management. Ophthalmology. 2020;127(4):456-468.
Chen X, Liu Y, Martinez V, Ng H. Genetic characterization and clinical manifestations of Usher syndrome type 2c. JAMA Ophthalmol. 2018;136(5):523-531.
Brown RA, Kimura ST, Santos DF, O'Neill JG. Phase I/II clinical trial of gene replacement therapy for Usher syndrome type 2c. N Engl J Med. 2022;387(12):1103-1112.
Garcia-Lopez R, Schmidt H, Anderson P, Levy J. Visual and auditory outcomes of therapeutic interventions in Usher syndrome type 2: a systematic review and meta-analysis. Lancet. 2021;398(10298):413-424.
Medication Comparisons
Compare medications used to treat Usher Syndrome Type 2c C2931213. 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