Twins with senior-Loken syndrome.
Senior-Loken syndrome is a rare entity that combines familial juvenile nephronophthisis with retinal dystrophy. The eye disease may be congenital amaurosis of Leber type or pigmentary retinal degeneration and electroretinogram (ERG) helps in the diagnosis of these varieties. The disease progresses inexorably to chronic renal failure. Here is a case of twins with Senior-Loken syndrome emphasizing the importance of ophthalmic examination in children with renal failure, for determining a correct diagnosis.
Giridhar
S
S
Department of Pediatric Nephrology, Institute of Child Health and Hospital for Children, Egmore, Chennai 600008, India.
Padmaraj
R
R
Senguttuvan
Prabha
P
D017668:Age of Onset; D002648:Child; D004200:Diseases in Twins; D005260:Female; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000175:diagnosis / Q000235:genetics; D007676:Kidney Failure, Chronic / Q000209:etiology; D009394:Nephritis, Hereditary / Q000175:diagnosis / Q000235:genetics; D009395:Nephritis, Interstitial / Q000175:diagnosis / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome