Congenital hypertrophy of the retinal pigment epithelium (CHRPE) and familial adenomatous polyposis (FAP).

Familial adenomatous polyposis (FAP) is a genetically transmitted disease affecting the colon. It is characterized by the presence of several (at least 100) adenomatous polyps, each able to develop into carcinomas, and by other extra-colonic signs such as skin and bone lesions. Within the framework of research studies to identify phenotyphic markers for early detection of subjects at risk within a family affected by FAP, attention has recently been paid to congenital hypertrophy of the retinal pigment ephitelium (CHRPE). With the aim of evaluating the relationship between FAP and CHRPE, 36 members of 7 FAP families were examined. We found that 43.75% of the subjects presenting CHRPE areas were also affected by FAP, whereas 58.33% of patients affected by FAP had CHRPE. Our findings indicated a lower incidence of CHRPE in FAP patients, compared to other studies reported so far. Moreover, in a control group of 160 healthy individuals we found a CHRPE prevalence of 5.5%.