Gardner's syndrome is an adenomatous polyposis coli characterized by e
xtracolonic manifestations such as congenital hypertrophy of retinal p
igment epithelium. This inherited autosomal dominant disorder has a ma
rked propensity to malignant transformation, so it is important to det
ect affected patients early. Ophthalmologic manifestations are simple,
non invasive reliable and very sensitive. The gene responsible for th
is disorder was localized to' the long arm of the fifth chromosome. Th
e results of investigation in 3 families are reported herein and compa
red with the data of the literature.