title: Familial polyposis coli: the spectrum of ocular and other extracolonic manifestations.
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.
authors.affiliation: Department of Ophthalmology, Cornell University Medical College, New York NY 10021.
authors.forename: M H
authors.initials: MH
authors.lastname: Heinemann
authors.forename: R H
authors.initials: RH
authors.lastname: Baker
authors.forename: H H
authors.initials: HH
authors.lastname: Miller
authors.forename: J J
authors.initials: JJ
authors.lastname: DeCosse
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000150:complications* / Q000178:diet therapy; D000328:Adult; D000368:Aged; D004043:Dietary Fiber / Q000627:therapeutic use; D016099:Endoscopy, Gastrointestinal; D005190:Family; D005260:Female; D005654:Fundus Oculi; D005770:Gastrointestinal Neoplasms / Q000209:etiology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009372:Neoplasms, Connective Tissue / Q000209:etiology*; D010857:Pigment Epithelium of Eye / Q000473:pathology; D011127:Polyps / Q000209:etiology*; D011446:Prospective Studies; D012164:Retinal Diseases / Q000209:etiology*