[Fundus oculi test in the detection of Gardner syndrome]

Abstract

Gardner's syndrome is an adenomatous polyposis coli characterized by extracolonic manifestations such as congenital hypertrophy of retinal pigment epithelium. This inherited autosomal dominant disorder has a marked propensity to malignant transformation, so it is important to detect affected patients early. Ophthalmologic manifestations are simple, non invasive reliable and very sensitive. The gene responsible for this disorder was localized to the long arm of the fifth chromosome. The results of investigation in 3 families are reported herein and compared with the data of the literature.