Deibert Brent, Ferris Letisha, Sanchez Noel, Weishaar Paul
University of Kansas Medical Center - Wichita, 1010 North Kansas, Wichita, KS, USA.
University of Nebraska Medical Center, 42nd and Emile, Omaha, NE, USA.
Am J Ophthalmol Case Rep. 2019 Jul 24;15:100524. doi: 10.1016/j.ajoc.2019.100524. eCollection 2019 Sep.
Clarify the differences between Familial Adenomatous Polyposis (FAP)-associated Congenital Hypertrophy of the Retinal Epithelium (CHRPE) and benign variants with regards to lesion characteristics and associated risk.
An eighteen-year-old man with no past medical history was found to have multiple lesions in both eyes that were consistent with FAP-associated CHRPE. Although family history was negative for colon cancer, a colonoscopy was performed, and hundreds of polyps were found extending from the rectum to the distal colon with pathological findings of tubular adenoma. Genetic testing was consistent with a possible Adenomatous Polyposis Coli (APC) mutation.
FAP is an autosomal dominant syndrome that causes colorectal cancer by age thirty-five in ninety-five percent of cases. There has been no established relationship between the benign variants of CHRPE and FAP, and patients with benign variants have no increased risk of colon cancer. While the lack of distinction in nomenclature and similar lesion appearance often leads to misdiagnosis and overtreatment, there are distinct ocular exam features that can provide the correct diagnosis. The exam findings that distinguish FAP-associated CHRPE lesions are (1) bilateralism, (2) occurrence in multiple quadrants, (3) pisiform shape, and (4) irregular borders. Knowing these features can be of great aid, especially in the setting of suspected Familial Adenomatous Polyposis.
阐明家族性腺瘤性息肉病（FAP）相关的视网膜色素上皮先天性肥大（CHRPE）与良性病变在病变特征和相关风险方面的差异。
一名既往无病史的18岁男性被发现双眼有多个符合FAP相关CHRPE的病变。尽管家族史中结肠癌为阴性，但仍进行了结肠镜检查，发现从直肠到结肠远端有数百个息肉，病理结果为管状腺瘤。基因检测与可能的腺瘤性息肉病 coli（APC）突变一致。
FAP是一种常染色体显性综合征，在95%的病例中会在35岁前导致结直肠癌。CHRPE的良性病变与FAP之间尚未建立明确的关系，良性病变患者患结肠癌的风险没有增加。虽然命名上缺乏区分以及病变外观相似常常导致误诊和过度治疗，但有一些独特的眼部检查特征可以提供正确的诊断。区分FAP相关CHRPE病变的检查结果是：（1）双侧性，（2）多个象限出现，（3）豌豆状，（4）边界不规则。了解这些特征会有很大帮助，尤其是在疑似家族性腺瘤性息肉病的情况下。
