This 76yo male was asymptomatic when he presented with multiple, irregular congenital hypertrophy of the RPE (CHRPE) lesions in both eyes (only the left eye pictured).
He had a known family history of familial adenomatous polyposis (FAP) or Gardner’s Syndrome. Annual screening colonoscopies have been normal.
Learning Points:
FAP is an autosomal dominant syndrome associated with colonic polyps and colorectal cancer. Although typical CHRPE lesions (large, round, unilateral, with depigmented lacunae with age) are not associated with systemic abnormalities, multifocal, often bilateral, small comet-shaped lesions in FAP are associated with colonic polyps and cancer.
