Senior-Loken syndrome (familial renal-retinal dystrophy) and Coats' disease.
Senior-Loken syndrome is a rare hereditary disease that combines a disorder resembling familial juvenile nephronophthisis with retinitis pigmentosa. Retinitis pigmentosa is even less frequently associated with exudative retinopathy. The patient, a 15-year-old boy, had hereditary renal-retinal dystrophy combined with an exudative vasculopathy of the Coats' type. The patient is on thrice-weekly hemodialysis after two kidney transplants failed. One eye became painful and blind and was eventually enucleated.
D000293:Adolescent; D006801:Humans; D007674:Kidney Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D012160:Retina / Q000473:pathology; D012162:Retinal Degeneration / Q000150:complications / Q000235:genetics* / Q000473:pathology; D012164:Retinal Diseases / Q000150:complications* / Q000473:pathology; D012171:Retinal Vessels / Q000648:ultrastructure; D013577:Syndrome