Berk T, Cohen Z, McLeod R S, Parker J A
Toronto General Hospital, Department of Surgery, Ontario, Canada.
Dis Colon Rectum. 1988 Apr;31(4):253-7. doi: 10.1007/BF02554355.
Fifty patients were assessed for congenital hypertrophy of the retinal pigment epithelium (CHRPE) as a potential phenotypic marker for familial adenomatous polyposis (FAP), with and without other extracolonic manifestations (ECM). The ocular anomaly, which characteristically is multiple, benign, and congenital, was studied in three groups. Group 1 contained eight patients with nonpolyposis colon cancer as disease controls. All had negative eye findings. Group 2 included 40 patients with FAP, 35 (87.5 percent) of whom had retinal lesions. Twenty-two of 25 patients with FAP alone had retinal lesions while 13 of 15 patients with FAP and extracolonic manifestations were similarly affected. Group 3 included 11 offspring at risk for FAP. Eight (72.7 percent) offspring had retinal lesions. One of the eight subjects with the ocular trait was subsequently diagnosed with FAP. Two of the eight patients also had other ECM but have not been sigmoidoscoped for FAP. Seven of 11 offspring (mean age, 12.5 years) have had negative flexible sigmoidoscopy. Specificity of the retinal lesions in FAP cannot be ascertained until subsequent adenomas are identified on follow-up of the group at risk. The gene responsible for CHRPE appears to be transmitted from one generation to another, demonstrated by the high sensitivity of the retinal lesions in patients with FAP alone and with other ECM.
对50例患者进行了评估，以确定视网膜色素上皮先天性肥大（CHRPE）作为家族性腺瘤性息肉病（FAP）潜在表型标志物的情况，这些患者有无其他结肠外表现（ECM）。对三组患者研究了这种具有多发性、良性和先天性特征的眼部异常。第1组包含8例非息肉病性结肠癌患者作为疾病对照。所有患者眼部检查结果均为阴性。第2组包括40例FAP患者，其中35例（87.5%）有视网膜病变。25例仅患有FAP的患者中有22例有视网膜病变，而15例患有FAP且有结肠外表现的患者中有13例也有类似病变。第3组包括11名有FAP风险的后代。8名（72.7%）后代有视网膜病变。8名有眼部特征的受试者中有1名随后被诊断为FAP。8名患者中有2名也有其他结肠外表现，但尚未接受乙状结肠镜检查以排查FAP。11名后代中有7名（平均年龄12.5岁）乙状结肠镜检查结果为阴性。在对有风险的组进行随访并发现后续腺瘤之前，无法确定FAP中视网膜病变的特异性。单独患有FAP以及患有其他结肠外表现的患者视网膜病变的高敏感性表明，导致CHRPE的基因似乎可以代代相传。
