Senior Loken Syndrome
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 decre...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Private Limited
2016-11-01
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| Series: | Journal of Clinical and Diagnostic Research |
| Subjects: | |
| Online Access: | https://jcdr.net/articles/PDF/8816/21832_CE[Ra]_F(Sh)_PF1(AS_VJ)_PFA(AK)_PF2(PAG).pdf |
| Summary: | 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. |
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| ISSN: | 2249-782X 0973-709X |