Ocular manifestations of familial adenomatous polyposis (Gardner syndrome).
Familial adenomatous polyposis (FAP) is a colon cancer predisposition syndrome in which hundreds to thousands of precancerous colonic polyp become evident at a mean age of 16 years (range, 7-36 years). By age 35 years, 95% of patients have polyps. Gardner syndrome is the eponym given to a subgroup of FAP with extracolonic manifestations, such as pigmented ocular fundus lesions that resemble congenital hypertrophy of the retinal pigment epithelium, among others.
Traboulsi
Elias I
EI
Department of Pediatric Ophthalmology and Strabismus and the Center for Genetic Eye Disease, Cole Eye Institute, Cleveland Clinic Foundation (i32), 9500 Euclid Avenue, Cleveland, OH 44195, USA. traboue@ccf.org
D005451:Fluorescein Angiography; D005654:Fundus Oculi; D005736:Gardner Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology; D017491:Genes, APC / Q000502:physiology; D005838:Genotype; D006801:Humans; D006984:Hypertrophy / Q000150:complications / Q000235:genetics / Q000473:pathology; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D010857:Pigment Epithelium of Eye / Q000473:pathology*; D012164:Retinal Diseases / Q000150:complications* / Q000235:genetics / Q000473:pathology