The FAP ((Familial Adenomatous Polyposis) Gene Support Group (UK). FAP is an inherited condition which mainly affects the large intestine (also known as the large bowel or colon and rectum).(photo of John Roberts FAP Gene Chairman)
Gardner syndrome is a variant of Familial Adenomatous Polyposis (FAP) characterized by multiple, bilateral atypical CHRPE. TRIAD=intestinal polyps+skeletal hamartomas+soft tissue tumours (cysts, neurofibromas, etc). Over 50% will have dental anomalies. This condition can be seen as early as childhood and patients will develop colon cancer if left untreated.
congenital hypertrophy of the retinal pigment epithelium (CHRPE) •Represents enlargement of RPE cells •Usually very dark clinically they are asymptomatic although careful plotting of the visual field may show absolute scotoma corresponding to the lesion. Patients with bilateral multiple lesions (bear tracking) may have Gardner's syndrome, FAP. More common temporally. Most CHRPE lesions also feature a pigmented or nonpigmented halo just inside the margin of the lesion
Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is usually found before patients reach 30 years of age. They may enlarge with time, but are not commonly associated with malignant transformation. There has been an association made between people with Gardner's Syndrome (familial colonic polyposes) and CHRPE.