Familial Polyposis Coli: the Spectrum of Ocular and Other Extracolonic Manifestations

Overview

Journal Graefes Arch Clin Exp Ophthalmol

Specialty Ophthalmology

Date 1991 Jan 1

PMID 1651277

Citations 5

Authors

M H Heinemann

R H Baker

H H Miller

J J DECOSSE

Affiliations

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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.

Citing Articles

Hamartomas of the Retina and Optic Disc.

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Value of the congenital hypertrophy of the retinal pigment epithelium in the diagnosis of familial adenomatous polyposis.

Tourino R, Conde-Freire R, Cabezas-Agricola J, Rodriguez-Aves T, Lopez-Valladares M, Otero-Cepeda J Int Ophthalmol. 2004; 25(2):101-12.

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Diagnostic value of fundus examination in familial adenomatous polyposis.

Tiret A, Tiret E, Laroche L Br J Ophthalmol. 1998; 81(9):755-8.

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Changes in the retinal pigment epithelium close to retinal vessels in familial adenomatous polyposis.

Schmidt D, Jung C, Wolff G Graefes Arch Clin Exp Ophthalmol. 1994; 232(2):96-102.

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Genetic heterogeneity of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in families with familial adenomatous polyposis.

Hodgson S, Bishop D, Jay B J Med Genet. 1994; 31(1):55-8.

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