Senior-Loken syndrome in an Iranian family.
Senior-Loken syndrome is a rare entity that combines familial juvenile nephronophthisis with retinal dystrophy. Herein, we report Senior-Loken syndrome in six members of an Iranian family with progressive blindness and renal failure since childhood. Although, this syndrome was reported from other parts of the world, report of six members of one family with this syndrome is rare. To the best of our knowledge, this is the first report from Iran.
Roozbeh
Jamshid
J
Urology Nephrology Research Center, Department of Internal Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
Sharifian
Maryam
M
Hosseini
Hamid
H
Sagheb
Mohammad Mahdi
MM
Behzadi
Saeed
S
Raeisjalali
Ghanbar Ali
GA
Iraniparast
Alireza
A
Afshariani
Raha
R
Tohidi
Masume
M
Sharifian
Mostafa
M
D000293:Adolescent; D000328:Adult; D001766:Blindness; D002386:Cataract / Q000175:diagnosis; D002387:Cataract Extraction; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007674:Kidney Diseases / Q000150:complications / Q000235:genetics*; D008297:Male; D009679:Nuclear Family; D012162:Retinal Degeneration / Q000150:complications / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000175:diagnosis; D035781:Siblings; D013577:Syndrome