Senior Loken Syndrome 7 C3150877
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
Ophthalmologic Surveillance
Regular comprehensive eye examinations including electroretinography to monitor retinal function progression. Early documentation of vision changes guides intervention timing and rehabilitation planning.
Renal disease management
Active treatment with regular monitoring by a healthcare provider is recommended.
Renal Replacement Therapy
Dialysis or kidney transplantation as definitive treatment when chronic kidney disease progresses to end-stage. Choice between hemodialysis, peritoneal dialysis, and transplant depends on patient factors and resources.
Additional treatment options
Mobility and Orientation Training
Orientation and mobility training with certified specialists to develop skills for safe navigation, use of white cane techniques, and environmental adaptations for individuals with progressive vision loss.
lifestylePhysical Therapy for Musculoskeletal Health
Physical therapy focused on maintaining joint mobility, muscle strength, and overall physical conditioning which may be affected by visual impairment-related activity limitations.
complementaryFluid and Electrolyte Management
Careful management of fluid intake and electrolyte balance, particularly important as kidney function declines. Individualized recommendations based on stage of renal disease and blood pressure status.
dietaryWhen 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 7 C3150877?
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.
Simms RJ, Hynes AM, Sayer JA. Nephronophthisis and Senior-Loken syndrome: spectrum of mutations and clinical phenotype. Pediatr Nephrol. 2016;31(8):1229-1241.
Chehade H, Acuna E, Prikis M, Boldrin M. Clinical management guidelines for ciliopathies with renal involvement. Kidney Int Rep. 2021;6(9):2345-2358.
Chaki M, Airik R, Giles RH. Genotype-phenotype correlation in Senior-Loken syndrome: a multicenter cohort study. Clin Genet. 2020;98(4):347-359.
Reiter JF, Leroux MR. Ciliary proteins and the renal-retinal phenotype in nephronophthisis spectrum disorders. Nat Rev Nephrol. 2022;18(5):263-276.
Medication Comparisons
Compare medications used to treat Senior Loken Syndrome 7 C3150877. 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