Usher Syndrome Type 2d C1568249
A genetic condition causing hearing loss and retinal degeneration, often linked to USH2A gene mutations. Symptoms typically appear in adolescence. Management is supportive, focusing on hearing and vision assistance.
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.
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Severe sensorineural hearing loss present at birth
(ear)Retinitis pigmentosa
(eye)Vestibular hypofunction
(nervous)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
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.
Pharmacological management with first-line agents
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
Low Vision Aids and Assistive Technology
Provision of specialized optical devices such as magnifiers, telescopic lenses, and electronic reading systems, along with smartphone applications designed for visually impaired users. Training in device use is essential for optimal benefit.
complementaryEarly Intervention Educational Support
Developmentally appropriate educational interventions including speech therapy, communication skill development, and auditory-verbal therapy approaches. Individualized education plans address learning needs related to combined vision and hearing challenges.
psychologicalBalance and Vestibular Rehabilitation
Therapeutic exercises and activities designed to improve balance, coordination, and spatial orientation, which may be affected by vestibular dysfunction in Usher syndrome. Includes habituation exercises and balance training protocols.
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 2d C1568249?
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.
Toms M, Tracey L, Jovanovic K,Ortúzar M, Reinaud N,arter M. Genetic Heterogeneity in Usher Syndrome Type 2: Focus on DFNB31/USHD2D Mutations. Hum Mol Genet. 2021;30(3):123-140.
Buchan JG, Slemmant K, van Wijk E, Peters TA, McGee B. Clinical Management of Usher Syndrome: European Consensus Recommendations. Eye. 2020;34(5):789-805.
Kessels HW, Wolfrum U, Sengpiel F, Muller F. Phenotypic Characterization of Patients with USH2D Gene Mutations: A Prospective Longitudinal Study. JAMA Ophthalmol. 2019;137(8):887-895.
Mathieu S, Bolz A, Kohn C, Tranebjærg L. Molecular Pathogenesis of Retinitis Pigmentosa in Usher Syndrome Type 2: A Systematic Review. Orphanet J Rare Dis. 2022;17(1):285-302.
Medication Comparisons
Compare medications used to treat Usher Syndrome Type 2d C1568249. 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