Familial polyposis coli: the spectrum of ocular and other extracolonic manifestations
| Autor: | Richard H. Baker, Jerome J. DeCosse, Helen H. Miller, Murk-Hein Heinemann |
|---|---|
| Rok vydání: | 1991 |
| Předmět: |
Adult
Dietary Fiber Male Pathology medicine.medical_specialty Ophthalmic examination Fundus Oculi Colorectal cancer Eye disease Fundus (eye) Endoscopy Gastrointestinal Cellular and Molecular Neuroscience Polyps Retinal Diseases Pigmented retinal medicine Humans Upper gastrointestinal Family Prospective Studies Pigment Epithelium of Eye Aged Gastrointestinal Neoplasms Neoplasms Connective Tissue business.industry Familial polyposis coli Middle Aged medicine.disease Sensory Systems body regions Ophthalmology Adenomatous Polyposis Coli Female sense organs business Retinopathy |
| Zdroj: | Graefe's Archive for Clinical and Experimental Ophthalmology. 229:213-218 |
| ISSN: | 1435-702X 0721-832X |
| DOI: | 10.1007/bf00167870 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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