Does retinitis pigmentosa relate with polycystic kidney disease?


Kocyigit I. , ÜNAL A. , Ozaslan E. , OYMAK O. , Utas C.

INTERNATIONAL UROLOGY AND NEPHROLOGY, vol.42, no.4, pp.1103-1105, 2010 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 42 Issue: 4
  • Publication Date: 2010
  • Doi Number: 10.1007/s11255-010-9709-8
  • Title of Journal : INTERNATIONAL UROLOGY AND NEPHROLOGY
  • Page Numbers: pp.1103-1105

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.