Q99.813
Usher syndrome, type 3
Clinical Classification Guidelines
Medical Intelligence & Overview
Usher syndrome type 3 is a rare genetic disorder that primarily affects hearing and vision. It is part of a broader group of conditions known as Usher syndromes, which are characterized by combined hearing loss and visual impairment. Unlike other types, Usher syndrome type 3 typically presents with progressive loss of both hearing and sight after the initial development, often during adolescence or adulthood. This syndrome can significantly impact an individual’s communication, independence, and overall quality of life, making early recognition and management vital.
Causes & Symptoms
Clinical Causes: Genetic mutations inherited in an autosomal recessive pattern Mutations in the CLRN1 gene, which encodes the protein clarin-1 Family history of Usher syndrome, suggesting inherited nature
Key Symptoms: Progressive hearing loss, often starting in late childhood or adolescence Gradual decline in vision due to retinitis pigmentosa, characterized by night blindness and peripheral vision loss Delayed onset of symptoms compared to other types of Usher syndrome Potential balance problems or dizziness, depending on inner ear involvement Difficulty adapting to low-light environments as vision deteriorates
Diagnostic & Treatment
Diagnosis Path: Hearing tests (audiometry) to assess the degree of hearing loss Eye examinations, including retinal imaging and visual field tests Genetic testing to identify mutations in known Usher syndrome-related genes, particularly CLRN1 Family history assessment to determine inheritance patterns Electroretinography (ERG) to evaluate retinal function
Treatment Protocols: Hearing aids and cochlear implants to address hearing loss Visual aids such as magnifiers or orientation and mobility training Assistive technology including alert systems and specialized devices Regular monitoring of both auditory and visual health Genetic counseling for affected families to understand inheritance and risks Participating in research studies or clinical trials exploring potential future therapies
Clinical Advice & FAQs
Billing Guidance
Is Q99.813 a billable ICD-10 code?
Yes, Q99.813 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report Q99.813?
Clinical documentation must specify the nature of Usher syndrome, type 3 and any associated comorbidities for accurate reporting.
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