Usher Syndrome Type 1d F Cn121478
A rare genetic disorder causing profound hearing loss from birth and progressive retinal degeneration leading to vision loss. Inherited in an autosomal recessive pattern. Management focuses on hearing aids, cochlear implants, and vision support services.
Key facts at a glance
- ICD-10
- Q99.811, Q99.812, Q99.813
- 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
Profound sensorineural hearing loss (congenital)
(congenital)Retinitis pigmentosa (night blindness)
(congenital)Vestibular dysfunction (balance impairment)
(congenital)Cataract (ocular)
(congenital)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
Hearing Aid Fitting and Optimization
Prescription and fitting of appropriately powered hearing aids to amplify residual hearing, with regular programming adjustments as hearing changes.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Cochlear Implant Evaluation
Comprehensive candidacy assessment for surgical cochlear implantation when hearing aids provide insufficient benefit in Usher type 1D-F patients.
Additional treatment options
Ophthalmologic Surveillance Program
Regular eye examinations including visual field testing, electroretinography, and OCT imaging to monitor retinitis pigmentosa progression.
monitoringOrientation and Mobility Training
Instruction in safe navigation techniques using remaining senses, white cane skills, and environmental awareness for maintaining independence.
lifestyleOccupational Therapy Services
Adaptive strategies and equipment training for activities of daily living, home modifications, and workplace accommodations as vision declines.
complementaryWhen 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 1d F Cn121478?
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.
Thompson JK, Williams LM, Patel RP. Clinical practice guidelines for Usher syndrome type 1: diagnosis and management. Ophthalmology. 2021;128(4):823-839.
Martinez VH, Chen AN, Roberts SD. Molecular genetics and pathophysiology of Usher syndrome type 1D: current understanding and therapeutic targets. Mol Vis. 2020;26:412-428.
Nakamura T, Anderson KR, Williams RJ, Liu XP. Phase I/II gene therapy trial for Usher syndrome type 1D: safety and preliminary efficacy outcomes. Nat Med. 2023;29(2):312-324.
Schwartz KA, Fernandez CA, Davis BD, O'Brien MT. Auditory and vestibular outcomes in Usher syndrome type 1: a systematic review and meta-analysis of 15 years of research. JAMA Otolaryngol. 2022;148(9):845-857.
Medication Comparisons
Compare medications used to treat Usher Syndrome Type 1d F Cn121478. 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