[When is congenital hypertrophy of the retinal pigment epithelium (CHRPE) associated with the Gardner's syndrome? An overview with clinical examples].
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.
Meyer
Carsten H
CH
Zentrum für Augenheilkunde, Philipps-Universität Marburg, Marburg, Germany.
Becker
Ralph
R
Schmidt
Jörg C
JC
Kroll
Peter
P
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
D025601:Adenomatous Polyposis Coli Protein