title: Senior Loken Syndrome.
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.
authors.affiliation: Assistant Professor, Department of Pediatrics, Guru Gobind Singh Medical College and Hospital , Faridkot, India .
authors.forename: Amarpreet
authors.initials: A
authors.lastname: Kaur
authors.affiliation: Associate Professor, Department of Pediatrics, Guru Gobind Singh Medical College and Hospital , Faridkot, India .
authors.forename: Shashi Kant
authors.initials: SK
authors.lastname: Dhir
authors.affiliation: Senior Resident, Department of Pathology, Deen Dayal Upadhyay Hospital , New Delhi, India .
authors.forename: Geetika
authors.initials: G
authors.lastname: Goyal
authors.affiliation: Junior Resident, Department of Pediatrics, Guru Gobind Singh Medical College and Hospital , Faridkot, India .
authors.forename: Naveen
authors.initials: N
authors.lastname: Mittal
authors.affiliation: Professor, Department of Pediatrics, Guru Gobind Singh Medical College and Hospital , Faridkot, India .
authors.forename: R K
authors.initials: RK
authors.lastname: Goyal
keywords: End stage renal disease; Nephronophthisis; Retinal degeneration