ArticleJournal of clinical and diagnostic research : JCDR2016
Senior Loken Syndrome.
Article in Journal of clinical and diagnostic research : JCDR, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
11 citing papers in PubMed, 15 citations in OpenAlex.
- Senior-Løken syndrome with IQCB1/NPHP5 mutation in an adult: a case report.Journal of medical case reports · 2025Article
- Ciliopathy: Senior-Løken Syndrome.Advances in experimental medicine and biology · 2025Article
- Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences.International journal of molecular sciences · 2024Article
- Case report: Rare genetic liver disease - a case of congenital hepatic fibrosis in adults with autosomal dominant polycystic kidney disease.Frontiers in medicine · 2024Article
- Article
- A health terminological system for inherited retinal diseases: Content coverage evaluation and a proposed classification.PloS one · 2023Review
- Genetic analysis assists diagnosis of clinical systemic disease in children with excessive hyperopia.BMC pediatrics · 2022Article
- Embryology, Malformations, and Rare Diseases of the Cochlea.Laryngo- rhino- otologie · 2021Article
- Primary Cilium, An Unsung Hero in Maintaining Functional β-cell Population.The Yale journal of biology and medicine · 2019Review
- [Retinal dystrophy with kidney disease].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2018Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Senior Loken Syndrome (SLS) is a rare genetic disorder having juvenile nephronophthisis and retinal degeneration progressing to blindness and end stage renal disease. The present case report is about two sisters who presented with decreased visual acuity and end stage renal disease. Both had decreased vision, pallor, deranged renal function test and chronic malnutrition. Investigations revealed anaemia, uraemia, raised creatinine, low Glomerular Filteration Rate (GFR). Ophthalmology examination revealed nystagmus, retinal examination depicted pale optic disc and pigmentary changes in the retina. Renal ultrasound showed grade III renal parenchymal changes and bilateral cortico-medullary cysts. These cases are presented to highlight the importance of timely recognition of renal derangement in patients with retinal disease to delay end stage renal disease.
Indexed as
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.