The presence of congenital hypertrophy of the retinal pigment epithelium in a subgroup of patients with adenomatous polyposis coli mutations

Abstract

Patients expressing congenital hypertrophy of the retinal pigment epithelium (CHRPE) are clustered within specific families with familial adenomatous polyposis (FAP). CHRPE has been found to be dependent on the position of the mutation in the adenomatous polyposis coli (APC) gene. The significance of the CHRPE finding in view of this new evidence is discussed.