title: Does retinitis pigmentosa relate with polycystic kidney disease?
abstract: 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.
authors.affiliation: Department of Nephrology, Erciyes University Medical School, Kayseri, Turkey. iikocyigit@gmail.com
authors.forename: Ismail
authors.initials: I
authors.lastname: Koçyigit
authors.forename: Aydin
authors.initials: A
authors.lastname: Unal
authors.forename: Ersin
authors.initials: E
authors.lastname: Ozaslan
authors.forename: Oktay
authors.initials: O
authors.lastname: Oymak
authors.forename: Cengiz
authors.initials: C
authors.lastname: Utas
mesh_terms: D005260:Female; D006801:Humans; D007690:Polycystic Kidney Diseases / Q000150:complications*; D012174:Retinitis Pigmentosa / Q000150:complications*; D055815:Young Adult