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  • Title: [When is congenital hypertrophy of the retinal pigment epithelium (CHRPE) associated with the Gardner's syndrome? An overview with clinical examples].
    Author: Meyer CH, Becker R, Schmidt JC, Kroll P.
    Journal: Klin Monbl Augenheilkd; 2002 Sep; 219(9):644-8. PubMed ID: 12410463.
    Abstract:
    Congenital hypertrophy of the retinal pigment epithelium (CHRPE) can be associated with Gardner's syndrome (GS). During childhood multiple adenomatose polyps develop in the colon ascendens (familiar-autosomal Polyposis coli [FAP]), and always become malignant until the age of 35. The tumour-suppressive FAP-gen was identified at the long arm of chromosome 5 (5q21). Ophthalmic funduscopy is very important. Patients with more than 3 CHRPE in one eye or a bilateral CHRPE, as well as patients with a positive family history and one unilateral solid CHRPE require further gastroenterological evaluation.
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