Literature DB >> 28050464

Senior Loken Syndrome.

Amarpreet Kaur1, Shashi Kant Dhir2, Geetika Goyal3, Naveen Mittal4, R K Goyal5.   

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.

Entities:  

Keywords:  End stage renal disease; Nephronophthisis; Retinal degeneration

Year:  2016        PMID: 28050464      PMCID: PMC5198417          DOI: 10.7860/JCDR/2016/21832.8816

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN: 0973-709X


  12 in total

1.  Senior-Loken syndrome with unusual manifestations.

Authors:  N P Singh; S Anuradha; S Gupta; S N Rizvi; R Arora
Journal:  J Assoc Physicians India       Date:  1998-08

2.  Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy.

Authors:  B SENIOR; A I FRIEDMANN; J L BRAUDO
Journal:  Am J Ophthalmol       Date:  1961-11       Impact factor: 5.258

3.  Senior-Loken syndrome in an Iranian family.

Authors:  Jamshid Roozbeh; Maryam Sharifian; Hamid Hosseini; Mohammad Mahdi Sagheb; Saeed Behzadi; Ghanbar Ali Raeisjalali; Alireza Iraniparast; Raha Afshariani; Masume Tohidi; Mostafa Sharifian
Journal:  Saudi J Kidney Dis Transpl       Date:  2010-07

4.  Sonographic appearance of the juvenile nephronophthisis-cystic renal medulla complex.

Authors:  A Aguilera; M Rivera; N Gallego; J Nogueira; J Ortuno
Journal:  Nephrol Dial Transplant       Date:  1997-03       Impact factor: 5.992

5.  Senior- loken syndrome - a ciliopathy.

Authors:  Hemachandar R
Journal:  J Clin Diagn Res       Date:  2014-11-20

6.  Senior-Loken syndrome: revisited.

Authors:  B A Warady; G Cibis; U Alon; D Blowey; S Hellerstein
Journal:  Pediatrics       Date:  1994-07       Impact factor: 7.124

7.  Twins with senior-Loken syndrome.

Authors:  S Giridhar; R Padmaraj; Prabha Senguttuvan
Journal:  Indian J Pediatr       Date:  2006-11       Impact factor: 1.967

8.  Senior-loken syndrome with rare manifestations: a case report.

Authors:  Harikrishan K Aggarwal; Deepak Jain; Sachin Yadav; Vipin Kaverappa; Abhishek Gupta
Journal:  Eurasian J Med       Date:  2013-06

Review 9.  Educational paper: ciliopathies.

Authors:  Carsten Bergmann
Journal:  Eur J Pediatr       Date:  2011-09-07       Impact factor: 3.183

10.  Nephronophthisis: a genetically diverse ciliopathy.

Authors:  Roslyn J Simms; Ann Marie Hynes; Lorraine Eley; John A Sayer
Journal:  Int J Nephrol       Date:  2011-05-15
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  3 in total

1.  [Retinal dystrophy with kidney disease].

Authors:  B Hohberger; F Reil; R Meiller
Journal:  Ophthalmologe       Date:  2018-10       Impact factor: 1.059

2.  A Chinese patient of P102L Gerstmann-Sträussler-Scheinker disease contains three other disease-associated mutations in SYNE1.

Authors:  Jing Wang; Kang Xiao; Wei Zhou; Chen Gao; Cao Chen; Qi Shi; Xiao-Ping Dong
Journal:  Prion       Date:  2018-04-02       Impact factor: 3.931

Review 3.  Primary Cilium, An Unsung Hero in Maintaining Functional β-cell Population.

Authors:  Sukanya Lodh
Journal:  Yale J Biol Med       Date:  2019-09-20
  3 in total

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