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 Citations (Scopus)

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 2008

Fingerprint

Bardet-Biedl Syndrome
Renal Cell Carcinoma
Retinitis Pigmentosa
Eunuchism
Polydactyly
Kidney
Epithelium
Obesity
Learning

Keywords

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

ASJC Scopus subject areas

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

Cite this

Asymptomatic renal cell carcinoma as a finding of Bardet Biedl syndrome. / Zaldivar, Renzo A.; Neale, Matthew D.; Evans, William E.; Pulido, Jose S.

In: Ophthalmic Genetics, Vol. 29, No. 1, 03.2008, p. 33-35.

Research output: Contribution to journalArticle

Zaldivar, Renzo A. ; Neale, Matthew D. ; Evans, William E. ; Pulido, Jose S. / Asymptomatic renal cell carcinoma as a finding of Bardet Biedl syndrome. In: Ophthalmic Genetics. 2008 ; Vol. 29, No. 1. pp. 33-35.
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