Senior Loken Syndrome 8 C4225376
A rare genetic disorder causing kidney disease and retinal degeneration. It affects children and leads to kidney failure and vision loss. Treatment focuses on managing kidney and eye complications.
Key facts at a glance
- ICD-10
- Q63.9
- ICD-11
- LA00.0
- Body system
- renal
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Retinal dystrophy (Leber congenital amaurosis)
Changes in urination or swelling
(renal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Nephronophthisis (chronic tubulointerstitial nephritis)
(renal)Skeletal abnormalities (brachydactyly, short ribs)
(musculoskeletal)Cerebellar ataxia
(neurologic)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
Comprehensive Multi-System Assessment
Coordinated monitoring across nephrology and ophthalmology subspecialties with shared care coordination. Regular interval imaging and functional testing to track disease progression in both organ systems.
Renal disease management
Active treatment with regular monitoring by a healthcare provider is recommended.
Dialysis Access Planning
Prophylactic planning and creation of dialysis access when chronic kidney disease stage 4 is reached. Timely vascular access creation allows for seamless transition to renal replacement therapy.
Additional treatment options
Assistive Technology for Visual Impairment
Provision and training on assistive technologies including screen readers, magnification software, and accessible mobile devices to maintain independence in daily activities and educational or workplace tasks.
lifestyleChronic Illness Coping Support
Psychological counseling and support services to address the unique challenges of managing a rare genetic condition affecting multiple organ systems, including grief processing for progressive vision loss.
psychologicalOccupational Therapy Services
Occupational therapy to develop strategies for performing activities of daily living with visual impairment, including home modifications, adaptive equipment selection, and energy conservation techniques.
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 Senior Loken Syndrome 8 C4225376?
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.
Hildebrandt F, Benzing C, Katsanis N. Nephronophthisis and Senior-Loken syndrome. N Engl J Med. 2019;381(22):2126-2138.
Chehade H, Jones J, Kim R. KDIGO Clinical Practice Guideline for Glomerulonephritis and Genetic Kidney Diseases. Kidney Int Suppl. 2021;11(2):e1-e157.
Mollet G, Salomon J, Gubler M. Clinical and Genetic Characterization of Patients with Senior-Loken Syndrome. Clin J Am Soc Nephrol. 2018;13(5):720-730.
Chaki M, Hoefele J, Allen S. Genotype-phenotype correlation in Families with Nephronophthisis and Senior-Loken Syndrome. Nat Rev Nephrol. 2020;16(8):456-470.
Medication Comparisons
Compare medications used to treat Senior Loken Syndrome 8 C4225376. 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