Volume : VIII, Issue : I, January - 2018

Senior–Loken syndrome: Siblings with rare disease

Dr Gajanan Yelme, Dr Jayshree Salam, Dr Sainath Pattewar

Abstract :

 

Senior–Loken syndrome (SLS) is a rare disorder in which there is a combination of nephronophthisis and retinal dystrophy, which usually presents in the first two decades of life. The presenting features of the renal component are polyuria and polydipsia secondary to defective urinary concentrating ability. Nephronophthisis progresses to end–stage renal disease during the second decade. The retinal lesions are variable, ranging from severe infantile onset retinal dystrophy to more typical retinitis pigmentosa. The present case report is about two sisters who presented with decreased visual acuity and end stage renal disease. These cases are presented to highlight the importance of timely recognition of renal derangement in patients with retinal disease to intervene and delay end stage renal disease.

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Article: Download PDF   DOI : 10.36106/ijar  

Cite This Article:

Dr Gajanan Yelme, Dr Jayshree Salam, Dr Sainath Pattewar, Senior-Loken syndrome: Siblings with rare disease, INDIAN JOURNAL OF APPLIED RESEARCH : Volume-8 | Issue-1 | January-2018


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