Meyer Carsten H, Becker Ralph, Schmidt Jörg C, Kroll Peter
Zentrum für Augenheilkunde, Philipps-Universität Marburg, Marburg, Germany.
Klin Monbl Augenheilkd. 2002 Sep;219(9):644-8. doi: 10.1055/s-2002-35163.
Congenital hypertrophy of the retinal pigment epithelium (CHRPE) can be associated with Gardner's syndrome (GS). During childhood multiple adenomatose polyps develop in the colon ascendens (familiar-autosomal Polyposis coli [FAP]), and always become malignant until the age of 35. The tumour-suppressive FAP-gen was identified at the long arm of chromosome 5 (5q21). Ophthalmic funduscopy is very important. Patients with more than 3 CHRPE in one eye or a bilateral CHRPE, as well as patients with a positive family history and one unilateral solid CHRPE require further gastroenterological evaluation.
先天性视网膜色素上皮肥大（CHRPE）可能与加德纳综合征（GS）相关。儿童期升结肠会出现多个腺瘤性息肉（家族性常染色体显性遗传性结肠息肉病[FAP]），到35岁时总会恶变。肿瘤抑制基因FAP定位于5号染色体长臂（5q21）。眼底检查非常重要。单眼有3个以上CHRPE或双眼有CHRPE的患者，以及有阳性家族史且有一个单侧实性CHRPE的患者，需要进一步进行胃肠病学评估。
