RETINAL PIGMENT EPITHELIAL LESIONS ASSOCIATED WITH A SPORADIC CASE OF FAMILIAL ADENOMATOUS POLYPOSIS.

PURPOSE: To report a sporadic case of a familial adenomatous polyposis (FAP) discovered in a patient with bilateral retinal pigment epithelial lesions.

METHODS

Case report.

RESULTS

A 30-year-old Asian woman presented for evaluation of bilateral pigmented lesions at the level of the retinal pigment epithelium. She had no personal or family history of colonic polyps or colon cancer. Colonoscopy revealed innumerable adenomatous polyps and genetic testing revealed a mutation in the adenomatous polyposis coli gene consistent with FAP. She subsequently underwent prophylactic total colectomy.

CONCLUSION

The pigmented retinal pigment epithelium lesions of FAP have a characteristic appearance and it is vital for the retinal specialist to be familiar with them. De novo mutations in the APC gene are responsible for 20% to 30% of FAP cases. In the presence of the characteristic retinal pigment epithelium lesions, it is important to send the patient for work up of FAP even in the absence of family history of FAP.