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Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.
Features include very common findings: Visual impairment, Retinal dystrophy, Hypertension, and Global developmental delay and others; and common findings: Nephronophthisis, Progressive visual loss, and Premature ovarian insufficiency. 16 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 4 | Visual impairment, Cataract, Retinal dystrophy |
Phenotype severity distribution: 8 very common features, 3 common features.
Estimated prevalence: 1-9 in 1,000,000 (Rare).
No clinical trials have been registered for Senior-Loken syndrome.
20 publications have been identified in PubMed for Senior-Loken syndrome. Research spans Review / Meta-Analysis (30%), Case Report / Case Series (25%), and Basic Science / Preclinical (20%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 6 | 30% |
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Senior-Loken syndrome
Kidneys and urinary system |
3 |
Nephronophthisis, Stage 5 chronic kidney disease, Chronic kidney disease |
Brain and nerves | 2 | Ataxia, Global developmental delay |
Heart and blood vessels | 1 | Hypertension |
Digestive system | 1 | Congenital hepatic fibrosis |
Pregnancy and birth | 1 | Congenital hepatic fibrosis |
Growth and development | 1 | Short stature |
Bones and joints | 1 | Abnormality of bone mineral density |
Age of onset: adolescence, childhood, adulthood.
5 |
25% |
Laboratory research | 4 | 20% |
Disease patterns and progression | 3 | 15% |
Other research | 1 | 5% |
New treatment approaches | 1 | 5% |
de Bruijn SE (2026). [PMID: 41876567](https://pubmed.ncbi.nlm.nih.gov/41876567/). *NPJ Genom Med*. [Other]
Li M (2026). [PMID: 41827476](https://pubmed.ncbi.nlm.nih.gov/41827476/). *J Clin Med*. [Case Report / Case Series]
Alzarka B (2025). [PMID: 39340573](https://pubmed.ncbi.nlm.nih.gov/39340573/). *Pediatr Nephrol*. [Review / Meta-Analysis]
Li K (2025). [PMID: 40801568](https://pubmed.ncbi.nlm.nih.gov/40801568/). *Cells*. [Basic Science / Preclinical]
Zhou D (2025). [PMID: 40427560](https://pubmed.ncbi.nlm.nih.gov/40427560/). *Biomolecules*. [Review / Meta-Analysis]
Figueiro-Silva J (2025). [PMID: 40701116](https://pubmed.ncbi.nlm.nih.gov/40701116/). *Stem Cell Res*. [Gene Therapy / Novel Therapeutics]
Matsuo T (2025). [PMID: 40503542](https://pubmed.ncbi.nlm.nih.gov/40503542/). *J Med Cases*. [Case Report / Case Series]
Yu M (2025). [PMID: 39940729](https://pubmed.ncbi.nlm.nih.gov/39940729/). *Int J Mol Sci*. [Review / Meta-Analysis]
de Bruijn SE (2025). [PMID: 40263280](https://pubmed.ncbi.nlm.nih.gov/40263280/). *NPJ Genom Med*. [Basic Science / Preclinical]
Ercoskun P (2025). [PMID: 39731278](https://pubmed.ncbi.nlm.nih.gov/39731278/). *Clin Genet*. [Epidemiology / Natural History]
AI-curated news mentioning Senior-Loken syndrome
Updated Mar 8, 2026
A case report highlights systemic and ocular manifestations in a patient with Senior-Loken Syndrome, emphasizing renal-retinal involvement. This research contributes to the understanding of ciliopathies and their diverse clinical presentations.