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J Clin Diagn Res. 2014 Nov;8(11):MD04-5. doi: 10.7860/JCDR/2014/9688.5120. Epub 2014 Nov 20.

Senior- loken syndrome - a ciliopathy.

R H1.

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Assistant Professor, Department of Nephrology, Mahatma Gandhi Medical College and Research Institute , Puducherry, India .


Senior - Loken syndrome is a rare combination of juvenile nephronophthisis and tapeto - retinal degeneration. The author describes two patients who presented with varying degrees of retinal dystrophy and renal insufficiency in their second decade of life. Both the patients presented with severe renal failure requiring hemodialysis. The first patient had early onset progressive retinal degeneration leading to childhood blindness whereas the second patient had asymptomatic retinitis pigmentosa. These cases are presented to highlight the spectrum of eye manifestations of Senior - Loken syndrome. This report also stresses the need for fundus evaluation in patients with chronic kidney disease presenting in second decade of life even if asymptomatic.


Familial juvenile nephronophthisis; Hereditary renal - retinal dystrophy; Renal – retinal syndrome; Retinitis pigmentosa

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