Familial polyposis coli: the spectrum of ocular and other extracolonic manifestations. Academic Article uri icon

Overview

abstract

  • Familial polyposis coli (FPC) is hereditary condition that conveys a virtual 100% risk for the development of colon cancer in the untreated patient. A total of 56 patients with FPC underwent complete ophthalmic examination. Highly pleomorphic pigmented retinal lesions were identified bilaterally in 52% (n = 29) and unilaterally in 14% (n = 8) of our subjects. In all, 33 patients had one or more extracolonic expressions associated with FPC, including desmoids, osteomas, epidermoid cysts, lipomas, fibromas, and upper gastrointestinal tract polyps. In 15 patients, pigmented fundus lesions were the only extracolonic manifestations. No significant association between eye findings and other extracolonic manifestations could be established. The presence or absence of pigmented fundus lesions was found to cluster within families. Pigmented fundus lesions are probably a variably penetrant expression of the polyposis gene and do not appear to be specifically associated with subgroups of inherited polyposis syndromes such as Gardner's syndrome.

publication date

  • January 1, 1991

Research

keywords

  • Adenomatous Polyposis Coli
  • Gastrointestinal Neoplasms
  • Neoplasms, Connective Tissue
  • Polyps
  • Retinal Diseases

Identity

Scopus Document Identifier

  • 0025906847

Digital Object Identifier (DOI)

  • 10.1007/BF00167870

PubMed ID

  • 1651277

Additional Document Info

volume

  • 229

issue

  • 3