Does retinitis pigmentosa relate with polycystic kidney disease?
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders. A 21-year-old woman presented with temporary visual loss and gross hematuria. Fundoscopy showed retinitis pigmentosa, which was confirmed by electroretinogram. Her serum creatinine concentration was 1.6 mg/dl, and her renal ultrasonography revealed bilateral polycystic kidneys; she was unaware of having this condition. In this patient, there was probably an inherited ciliary defect, which may explain the association of ADPKD and retinitis pigmentosa.
Koçyigit
Ismail
I
Department of Nephrology, Erciyes University Medical School, Kayseri, Turkey. iikocyigit@gmail.com
Unal
Aydin
A
Ozaslan
Ersin
E
Oymak
Oktay
O
Utas
Cengiz
C
D005260:Female; D006801:Humans; D007690:Polycystic Kidney Diseases / Q000150:complications*; D012174:Retinitis Pigmentosa / Q000150:complications*; D055815:Young Adult