Department of Ophthalmology, Northwest Permanente, Portland, Oregon; and.
West Coast Retina Medical Group/California Pacific Medical Center, San Francisco, California.
Retin Cases Brief Rep. 2022 Nov 1;16(6):759-761. doi: 10.1097/ICB.0000000000001072.
To report a sporadic case of a familial adenomatous polyposis (FAP) discovered in a patient with bilateral retinal pigment epithelial lesions.
Case report.
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.
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.
报告一例在双侧视网膜色素上皮病变患者中发现的散发性家族性腺瘤性息肉病（FAP）病例。
病例报告。
一名 30 岁的亚裔女性因双侧视网膜色素上皮水平的色素性病变就诊。她没有结肠息肉或结肠癌的个人或家族史。结肠镜检查显示无数腺瘤性息肉，基因检测显示 APC 基因发生突变，符合 FAP 诊断。随后她接受了预防性全结肠切除术。
FAP 的色素性视网膜色素上皮病变具有特征性外观，视网膜专家必须熟悉这些病变。APC 基因突变占 FAP 病例的 20%至 30%。在存在特征性视网膜色素上皮病变的情况下，即使没有 FAP 的家族史，也应将患者转至 FAP 检查。
