This healthy 4YO boy’s father and paternal grandfather have histories for colon cancer. He was referred to us for asymptomatic retinal findings.
Optos color and red-channel imaging shows multiple, bilateral, variably comet-shaped, 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, with depigmented lacunae with age) are not associated with systemic abnormalities, the FAP multifocal, often bilateral and smaller comet-shaped lesions, as seen in our patient, are associated with colonic polyps and cancer (see Romania et al Ophthalmology 1992;99:911-913).
The likely diagnosis of FAP was discussed with our patient’s family, and he was referred for genetic testing.
