title: [When is congenital hypertrophy of the retinal pigment epithelium (CHRPE) associated with the Gardner's syndrome? An overview with clinical examples].
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.
authors.affiliation: Zentrum für Augenheilkunde, Philipps-Universität Marburg, Marburg, Germany.
authors.forename: Carsten H
authors.initials: CH
authors.lastname: Meyer
authors.forename: Ralph
authors.initials: R
authors.lastname: Becker
authors.forename: Jörg C
authors.initials: JC
authors.lastname: Schmidt
authors.forename: Peter
authors.initials: P
authors.lastname: Kroll
mesh_terms: D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002648:Child; D002895:Chromosomes, Human, Pair 5; D005260:Female; D005654:Fundus Oculi; D005736:Gardner Syndrome / Q000175:diagnosis / Q000235:genetics*; D005773:Gastroscopy; D006801:Humans; D006984:Hypertrophy; D008297:Male; D008875:Middle Aged; D009887:Ophthalmoscopy; D010857:Pigment Epithelium of Eye / Q000002:abnormalities* / Q000473:pathology; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics*; D014786:Vision Disorders / Q000175:diagnosis / Q000235:genetics
chemical_list: D025601:Adenomatous Polyposis Coli Protein