家族性腺瘤性息肉病(加德纳综合征)的眼部表现。

Elias I Traboulsi
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引用次数: 29

摘要

家族性腺瘤性息肉病(FAP)是一种结肠癌易感综合征,其中数百至数千例癌前结肠息肉在平均16岁(范围7-36岁)时变得明显。到35岁时,95%的患者患有息肉。Gardner综合征是FAP的一个亚组,具有结肠外表现,如色素性眼底病变,类似先天性视网膜色素上皮肥大等。
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Ocular manifestations of familial adenomatous polyposis (Gardner syndrome).

Familial adenomatous polyposis (FAP) is a colon cancer predisposition syndrome in which hundreds to thousands of precancerous colonic polyp become evident at a mean age of 16 years (range, 7-36 years). By age 35 years, 95% of patients have polyps. Gardner syndrome is the eponym given to a subgroup of FAP with extracolonic manifestations, such as pigmented ocular fundus lesions that resemble congenital hypertrophy of the retinal pigment epithelium, among others.

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