CONGENITAL HYPERTROPHY OF THE RETINAL-PIGMENT EPITHELIUM (CHRPE) AND FAMILIAL ADENOMATOUS POLYPOSIS (FAP)

Familial adenomatous polyposis (FAP) is a genetically transmitted dise ase affecting the colon, It is characterized by the presence of severa l (at least 100) adenomatous polyps, each able to develop into carcino mas, and by other extra-colonic signs such as skin and bone lesions, W ithin the framework of research studies to identify phenotyphic marker s 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 re lationship between FAP and CHRPE, 36 members of 7 FAP families were ex amined, We found that 43.75% of the subjects presenting CHRPE areas we re also affected by FAP, whereas 58.33% of patients affected by FAP ha d CHRPE, Our findings indicated a lower incidence of CHRPE in FAP pati ents, compared to other studies reported so far, Moreover, in a contro l group of 160 healthy individuals we found a CHRPE prevalence of 5.5% .