Abstract
A female patient in her 20s presented to a routine ophthalmology appointment. Medical history was unremarkable. Family history was notable for intestinal cancer of a second-degree relative, diagnosed in her late 60s. Fundus examination revealed bilateral, multiple, flat, oval, pigmented lesions with an irregular halo of atrophy. The patient was diagnosed with atypical congenital hypertrophy of retinal pigmented epithelium. Investigation of extraocular associations was performed, including upper and lower endoscopy, which revealed 500–1000 colonic polyps with a maximum size 25 mm. Pathology did not reveal submucosal invasion. Genetic testing detected an adenomatous polyposis coli mutation (heterozygotic variant c.3183_3187delACAAA p.(Gln1062*)).