Diagnostic implications of Gardner Syndrome, case report of a familial adenomatous polyposis (FAP) variant, for eye care professionals

Gardner Syndrome (GS) is a variant of Familial Adenomatous Polyposis (FAP). FAP is characterized by several precancerous adenomatous intestinal polyps while GS has additional distinct extraintestinal features such as congenital hypertrophy of retinal epithelium (CHRPE), which we describe here. 42-year-old male with GS presenting with flashes and floaters observed to have CHRPE-like lesions characteristic of GS. Subtle CHRPE findings differentiate pathological, described in the present case, from non-pathological etiologies and may guide further management. Here we present the signs and symptoms that raise suspicion for GS associated with CHRPE and how to approach management late in the disease presentation.