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Senior Loken Syndrome
- Source :
- Journal of Clinical and Diagnostic Research, Vol 10, Iss 11, Pp SD03-SD04 (2016)
- Publication Year :
- 2016
- Publisher :
- JCDR Research and Publications, 2016.
-
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.
- Subjects :
- Retinal degeneration
medicine.medical_specialty
Pathology
genetic structures
government.form_of_government
Clinical Biochemistry
lcsh:Medicine
Renal function
Senior–Løken syndrome
urologic and male genital diseases
End stage renal disease
03 medical and health sciences
chemistry.chemical_compound
0302 clinical medicine
Retinal Examination
Nephronophthisis
Ophthalmology
medicine
Juvenile nephronophthisis
end stage renal disease
Creatinine
business.industry
lcsh:R
Paediatrics Section
General Medicine
medicine.disease
chemistry
nephronophthisis
retinal degeneration
030221 ophthalmology & optometry
government
sense organs
business
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 2249782X
- Database :
- OpenAIRE
- Journal :
- JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH
- Accession number :
- edsair.doi.dedup.....e6a21a34ce01f80fde4393ef3a151c25