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Case Reports
. 2016 Nov;10(11):SD03-SD04.
doi: 10.7860/JCDR/2016/21832.8816. Epub 2016 Nov 1.

Senior Loken Syndrome

Amarpreet Kaur  1 , Shashi Kant Dhir  2 , Geetika Goyal  3 , Naveen Mittal  4 , R K Goyal  5
Affiliations
Case Reports

Senior Loken Syndrome

Amarpreet Kaur et al. J Clin Diagn Res. 2016 Nov.

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.

Keywords: End stage renal disease; Nephronophthisis; Retinal degeneration.

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References

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