This healthy 13YO girl’s mother has a known history of familial adenomatous polyposis (FAP). She was referred to us for asymptomatic retinal findings. Fundus imaging shows multiple, bilateral, variably comet-shaped, variably pigmented jet-black subretinal lesions.
Learning Points:
Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome associated with colonic polyps and colorectal cancer. Although typical CHRPE lesions (large, round, unilateral, developing depigmented lacunae with age) are not associated with systemic abnormalities, the FAP multifocal, often bilateral, small, comet-shaped lesions, as seen in our patient, are associated with colonic polyps and cancer (Romania et al, Ophthalmology 1992;99:911-913). The likely diagnosis of FAP was discussed with our patient’s parents, and she was referred to her PCP for further management and genetic testing.
