Familial polyposis coli: The spectrum of ocular and other extracolonic manifestations Journal Article
| Authors: | Heinemann, M. H.; Baker, R. H.; Miller, H. H.; DeCosse, J. J. |
| Article 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. © 1991 Springer-Verlag. |
| Keywords: | adult; aged; major clinical study; prospective studies; gastrointestinal neoplasms; retinopathy; fundus oculi; fibroma; polyps; family; retinal diseases; desmoid tumor; endoscopy, gastrointestinal; lipoma; middle age; gardner syndrome; pigment epithelium; adenomatous polyposis coli; epidermoid cyst; familial colon polyposis; osteoma; dietary fiber; neoplasms, connective tissue; human; male; female; priority journal; article; pigment epithelium of eye |
| Journal Title: | Graefe's Archive for Clinical and Experimental Ophthalmology |
| Volume: | 229 |
| Issue: | 3 |
| ISSN: | 0721-832X |
| Publisher: | Springer |
| Date Published: | 1991-05-01 |
| Start Page: | 213 |
| End Page: | 218 |
| Language: | English |
| DOI: | 10.1007/bf00167870 |
| PUBMED: | 1651277 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | Article -- Export Date: 27 September 2019 -- Source: Scopus |
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