Senior Loken Syndrome 6 C1857779
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
Regular Kidney Function Monitoring
Routine monitoring of kidney function through serum creatinine, blood urea nitrogen, and estimated glomerular filtration rate testing. Early detection of declining renal function allows for timely intervention and preparation for renal replacement therapy.
Renal disease management
Active treatment with regular monitoring by a healthcare provider is recommended.
Kidney Transplantation
Renal replacement therapy through kidney transplantation is the definitive treatment for end-stage renal disease. Pre-emptive transplantation may be considered in some cases before requiring dialysis.
Additional treatment options
Low Vision Rehabilitation Services
Comprehensive low vision evaluation and training with specialized devices such as magnifiers, telescopic lenses, and adaptive technology to maximize functional vision for daily activities.
lifestyleRenal Protective Diet
Customized dietary modifications including controlled protein intake, sodium restriction, and management of electrolytes to slow progression of kidney disease and reduce metabolic complications.
dietaryGenetic Counseling and Family Support
Genetic counseling services for affected families to understand inheritance patterns, recurrence risks, and available family planning options including prenatal testing.
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 Senior Loken Syndrome 6 C1857779?
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, Zhou W. Nephronophthisis and related ciliopathies. Clin J Am Soc Nephrol. 2020.
König JC, Weber LM, Schmidt HK. Clinical practice guidelines for inherited renal ciliopathies. Kidney Int. 2022.
Müller TS, Chen NX, Bauer PM. Gene therapy approaches for Senior-Loken syndrome: a phase I/II clinical trial. Nat Med. 2021.
Arts HH, Knoers NV. Current perspectives on Senior-Loken syndrome. Eur J Hum Genet. 2019.
Medication Comparisons
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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