Asymptomatic renal cell carcinoma as a finding of Bardet Biedl syndrome

Renzo A. Zaldivar, Matthew D. Neale, William E. Evans, Jose S. Pulido

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

Retinitis pigmentosa represents a class of disorders that exhibit dystrophy of the photoreceptors, pigment epithelium, and often systemic abnormalities, Bardet-Biedl syndrome is a form of retinitis pigmentosa that has characteristic non-ocular findings including polydactyly, obesity, learning difficulties, male hypogonadism, and renal anomalies. Though none of these renal anomalies are neoplastic, there is a 17 fold increased risk for renal cell carcinoma in obligate carriers of Bardet-Biedl syndrome. Herein, we describe a case of metastatic renal cell carcinoma discovered in a patient with Bardet-Biedl syndrome.

Original languageEnglish (US)
Pages (from-to)33-35
Number of pages3
JournalOphthalmic Genetics
Volume29
Issue number1
DOIs
StatePublished - Mar 1 2008

Keywords

  • Bardet-Biedl syndrome
  • Renal cell carcinoma
  • Retinitis pigmentosa

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

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